Alain Fischer

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Alain Fischer is affiliated with the following schools: University of Debrecen, University of Tokyo, Paris Diderot University, Sorbonne University

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Alain Fischer

Biology

#934

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#1627

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Immunology

#28

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#31

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Alain Fischer

Philosophy

#2000

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#3511

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#883

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#1449

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philosophy Degrees

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Why Is Alain Fischer Influential?

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According to Wikipedia, Alain Fischer is a doctor, professor of pediatric immunology and French researcher in biology. Biography Alain Fischer's father had wanted to become a doctor, but had been prevented from doing so by the numerous clauses established against the Jews of Hungary. Alain Fischer says his father was one of the reasons he has made a medical career choice.

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Alain Fischer's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1 (2003) (3518)
Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. (2000) (2630)
Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients (2020) (1962)
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. (2003) (1868)
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. (2008) (1642)
Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2) (2000) (1535)
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy (2009) (1367)
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. (1995) (1349)
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia (2010) (1222)
Perforin gene defects in familial hemophagocytic lymphohistiocytosis. (1999) (1156)
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. (2002) (1137)
Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain. (1995) (927)
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome (2000) (917)
Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. (2016) (914)
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. (1996) (909)
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. (1998) (900)
Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency (2001) (886)
Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3) (2003) (854)
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling (2001) (781)
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. (2002) (745)
Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly (2006) (716)
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis (2011) (711)
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome (2006) (660)
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I (2010) (648)
Chronic Granulomatous Disease: The European Experience (2009) (623)
Clinical spectrum of X-linked hyper-IgM syndrome. (1997) (621)
CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM (1993) (612)
Human uracil–DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination (2003) (598)
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. (2007) (587)
Efficacy of gene therapy for X-linked severe combined immunodeficiency. (2010) (581)
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99 (2003) (532)
Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage (2013) (503)
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection (1999) (494)
Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society. (1996) (482)
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. (2009) (468)
Primary immunodeficiencies: 2009 update. (2009) (447)
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells (2008) (445)
Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. (2007) (442)
CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. (2001) (433)
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection. (1998) (429)
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene (1997) (425)
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. (1997) (407)
Efficacy and safety of rituximab in B-cell post-transplantation lymphoproliferative disorders: results of a prospective multicenter phase 2 study. (2006) (400)
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? (2010) (386)
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. (2014) (373)
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product (2005) (373)
Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules (2010) (371)
Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency (2011) (363)
Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries (2010) (339)
AID mutant analyses indicate requirement for class-switch-specific cofactors (2003) (337)
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (2009) (334)
Anti-B-cell monoclonal antibodies in the treatment of severe B-cell lymphoproliferative syndrome following bone marrow and organ transplantation. (1991) (328)
Anti-B-cell monoclonal antibodies in the treatment of severe B-cell lymphoproliferative syndrome following bone marrow and organ transplantation. (1991) (328)
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. (2015) (326)
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. (1993) (321)
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study (2017) (314)
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). (2011) (313)
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. (2014) (312)
A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency (2003) (312)
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. (2003) (310)
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (2003) (308)
Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients. (1999) (300)
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. (2004) (294)
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. (2009) (291)
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study (2014) (287)
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. (2004) (285)
Incidence, severity, and prevention of infections in chronic granulomatous disease. (1989) (280)
Treatment of childhood autoimmune haemolytic anaemia with rituximab (2001) (280)
Lymphoproliferative disorders after organ transplantation: a report of 24 cases observed in a single center. (1995) (277)
Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome: Molecular, Cellular, and Clinical Features From a French National Survey (2012) (274)
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4 (2007) (273)
Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency (2003) (271)
Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000. (2002) (270)
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. (2005) (268)
The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency. (1994) (268)
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. (1996) (265)
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. (2011) (263)
The European internet‐based patient and research database for primary immunodeficiencies: results 2006–2008 (2009) (261)
Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. (2010) (261)
Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients. (1998) (260)
Immunological conditions of children with BCG disseminated infection (1995) (257)
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. (2011) (254)
Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy. (2007) (253)
Evidence of innate lymphoid cell redundancy in humans (2016) (252)
Anti-B-cell monoclonal antibody treatment of severe posttransplant B-lymphoproliferative disorder: prognostic factors and long-term outcome. (1998) (252)
Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease (2011) (252)
MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. (2012) (250)
European experience of bone-marrow transplantation for severe combined immunodeficiency (1990) (249)
Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways (2003) (248)
Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. (2001) (248)
ISOLATION OF NEW LYMPHOTROPIC RETROVIRUS FROM TWO SIBLINGS WITH HAEMOPHILIA B, ONE WITH AIDS (1984) (245)
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. (2015) (244)
Impaired type I interferon activity and exacerbated inflammatory responses in severe Covid-19 patients (2020) (241)
Hematopoietic Stem Cell Transplantation in Hemophagocytic Lymphohistiocytosis: A Single-Center Report of 48 Patients (2006) (239)
Severe combined immunodeficiency. A model disease for molecular immunology and therapy (2005) (236)
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. (2007) (236)
Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study. (1996) (235)
Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis. (1997) (228)
Gene therapy for severe combined immunodeficiency: are we there yet? (2007) (225)
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study (2020) (224)
Immune reconstitution without graft-versus-host disease after haemopoietic stem-cell transplantation: a phase 1/2 study (2002) (223)
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. (2004) (222)
Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. (2008) (221)
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. (2009) (219)
Immunotherapy of Familial Hemophagocytic Lymphohistiocytosis With Antithymocyte Globulins: A Single-Center Retrospective Report of 38 Patients (2007) (216)
Partial albinism with immunodeficiency (Griscelli syndrome). (1994) (212)
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. (2001) (212)
Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. (1997) (212)
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. (2003) (208)
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. (2006) (206)
Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure (2007) (200)
Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. (1994) (198)
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness (2009) (196)
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. (2003) (189)
Clinical, immunological, and pathological consequences of Fas-deficient conditions (1996) (189)
Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies (2017) (187)
Measles Virus Induces Abnormal Differentiation of CD40 Ligand-Activated Human Dendritic Cells1 (2000) (185)
Bone marrow gene transfer in three patients with adenosine deaminase deficiency. (1996) (185)
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV (2006) (184)
BONE-MARROW TRANSPLANTATION FOR IMMUNODEFICIENCIES AND OSTEOPETROSIS: EUROPEAN SURVEY, 1968-1985 (1986) (183)
Leukocyte adhesion deficiency: molecular basis and functional consequences. (1988) (180)
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. (2010) (179)
Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. (2013) (179)
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. (2005) (177)
Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. (2001) (176)
New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children (2011) (175)
Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis (2005) (175)
Interleukin‐7 receptor α (IL‐7Rα) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients (2005) (174)
Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes (2017) (173)
Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. (1993) (172)
Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. (2015) (170)
Role of prostaglandin E2 in the induction of nonspecific T lymphocyte suppressor activity. (1981) (170)
Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report (2003) (170)
Neutralization of IFNγ defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice (2009) (170)
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children. (2016) (169)
Naturally occurring primary deficiencies of the immune system. (1997) (169)
A primary T-cell immunodeficiency associated with defective transmembrane calcium influx. (1995) (168)
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. (2016) (166)
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation (2014) (163)
TTC7A mutations disrupt intestinal epithelial apicobasal polarity. (2014) (162)
Immunodeficiency due to mutations in ORAI1 and STIM1. (2010) (161)
Gene therapy for severe combined immunodeficiency. (2005) (160)
20 years of gene therapy for SCID (2010) (159)
Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). (1991) (158)
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. (1999) (158)
Undetectable CD40 ligand expression on T cells and low B cell responses to CD40 binding agonists in human newborns. (1995) (157)
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. (2012) (156)
Gene therapy: X-SCID transgene leukaemogenicity (2006) (156)
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. (2003) (155)
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. (2013) (154)
Inherited defects in lymphocyte cytotoxic activity (2010) (154)
AIRE deficiency in thymus of 2 patients with Omenn syndrome. (2005) (153)
Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A. (1993) (152)
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common γc cytokine receptor subunit or JAK-3 deficiency (2004) (151)
Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. (1994) (150)
Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice. (2016) (150)
Severe combined immunodeficiencies (SCID) (2000) (150)
A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair Deficiency (1998) (149)
Expansion of Regulatory T Cells in Patients with Langerhans Cell Histiocytosis (2007) (146)
Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: the Chediak-Higashi Syndrome (1998) (146)
Severe combined immunodeficiencies and related disorders (2015) (146)
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. (2011) (144)
Hematologically important mutations: leukocyte adhesion deficiency (first update). (2012) (144)
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis (2002) (143)
Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis. (1986) (143)
Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor. (2000) (141)
PREVENTION OF GRAFT FAILURE BY AN ANTI-HLFA-1 MONOCLONAL ANTIBODY IN HLA-MISMATCHED BONE-MARROW TRANSPLANTATION (1986) (141)
Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. (2000) (141)
Human primary immunodeficiency diseases. (2007) (140)
CORRELATION OF GRANULOMA STRUCTURE WITH CLINICAL OUTCOME DEFINES TWO TYPES OF IDIOPATHIC DISSEMINATED BCG INFECTION (1997) (139)
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. (2002) (137)
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination (2008) (137)
A human immunodeficiency caused by mutations in the PIK3R1 gene. (2014) (136)
Reduction of graft failure by a monoclonal antibody (anti-LFA-1 CD11a) after HLA nonidentical bone marrow transplantation in children with immunodeficiencies, osteopetrosis, and Fanconi's anemia: a European Group for Immunodeficiency/European Group for Bone Marrow Transplantation report. (1991) (136)
Consequences of Fas-Mediated Human Dendritic Cell Apoptosis Induced by Measles Virus (2000) (136)
Cell-death signaling and human disease. (2003) (135)
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. (2013) (134)
Chimaeric anti‐CD20 monoclonal antibody (rituximab) in post‐transplant B‐lymphoproliferative disorder following stem cell transplantation in children (2001) (132)
Mechanisms of CD47-induced caspase-independent cell death in normal and leukemic cells: link between phosphatidylserine exposure and cytoskeleton organization. (2002) (132)
Failure of SCID-X1 gene therapy in older patients. (2005) (131)
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. (2009) (131)
Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. (2014) (130)
Treatment of B-lymphoproliferative disorder with a monoclonal anti-interleukin-6 antibody in 12 patients: a multicenter phase 1-2 clinical trial. (2001) (130)
Dynamics of gene-modified progenitor cells analyzed by tracking retroviral integration sites in a human SCID-X1 gene therapy trial. (2010) (130)
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. (2003) (129)
Treatment of four patients with erythrophagocytic lymphohistiocytosis by a combination of epipodophyllotoxin, steroids, intrathecal methotrexate, and cranial irradiation. (1985) (129)
Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn (2005) (129)
Cernunnos Interacts with the XRCC4·DNA-ligase IV Complex and Is Homologous to the Yeast Nonhomologous End-joining Factor Nej1* (2006) (128)
Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. (1999) (128)
Long-term chimerism and B-cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: A single-center study of 22 patients. (1999) (127)
Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype. (2007) (126)
Invasive pulmonary infection due to Scedosporium apiospermum in two children with chronic granulomatous disease. (1998) (126)
Primary antibody deficiencies (2013) (126)
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. (2013) (126)
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. (2014) (124)
Impaired natural killer activity in lymphohistiocytosis syndrome. (1984) (123)
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome. (2005) (122)
Human primary immunodeficiency diseases: a perspective (2004) (122)
Specific inhibition of in vitro Candida-induced lymphocyte proliferation by polysaccharidic antigens present in the serum of patients with chronic mucocutaneous candidiasis. (1978) (122)
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. (2003) (122)
Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3 (2004) (121)
Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases (2012) (121)
Erratum: Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy (New England Journal of Medicine (April 18, 2002) 346 (1185-1193)) (2002) (121)
Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections (2012) (121)
Treatment of hemophagocytic lymphohistiocytosis with chemotherapy and bone marrow transplantation: a single-center study of 22 cases. (1991) (120)
Two genes are responsible for Griscelli syndrome at the same 15q21 locus. (2000) (119)
Avascular necrosis of bone after allogeneic bone marrow transplantation: analysis of risk factors for 4388 patients by the Société Française de Greffe de Moëlle (SFGM) (1997) (119)
Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation: a retrospective European survey from the European group for bone marrow transplantation and the european society for immunodeficiency. (1999) (119)
Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: a report from the European Group for BMT and the European Group for Immunodeficiency (1994) (118)
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome. (1996) (117)
Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. (2006) (117)
Role of interleukin-2 (IL-2), IL-7, and IL-15 in natural killer cell differentiation from cord blood hematopoietic progenitor cells and from gamma c transduced severe combined immunodeficiency X1 bone marrow cells. (1996) (117)
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry (2018) (117)
Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy. (2012) (117)
Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: report of 10 cases. (1995) (116)
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. (2012) (116)
Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. (1994) (116)
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. (2011) (116)
A human immunodeficiency caused by mutations in the PIK3R1 gene. (2015) (115)
A human postnatal lymphoid progenitor capable of circulating and seeding the thymus (2007) (115)
Therapy for transplant-related lymphoproliferative diseases. (1993) (114)
Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey. (2011) (113)
Primary immunodeficiency diseases: an experimental model for molecular medicine (2001) (112)
Role of the LFA-1 molecule in cellular interactions required for antibody production in humans. (1986) (112)
Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection (2017) (111)
IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency. (1992) (110)
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis (2012) (110)
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. (2014) (109)
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? (2012) (109)
Induction by anti‐CD40 antibody or soluble CD40 ligand and cytokines of IgG, IgA and IgE production by B cells from patients with X‐linked hyper IgM syndrome (1993) (108)
B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil (2005) (107)
Bone marrow transplantation in 26 patients with Wiskott-Aldrich syndrome from a single center. (1996) (107)
Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome. (1998) (107)
Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex. (2012) (106)
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child. (1998) (106)
DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer (2008) (106)
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. (1987) (106)
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. (2011) (105)
Haematopoietic stem cell transplantation trends in children over the last three decades: a survey by the paediatric diseases working party of the European Group for Blood and Marrow Transplantation (2007) (105)
Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. (2005) (104)
BONE-MARROW TRANSPLANTATION FOR INBORN ERROR OF PHAGOCYTIC CELLS ASSOCIATED WITH DEFECTIVE ADHERENCE, CHEMOTAXIS, AND OXIDATIVE RESPONSE DURING OPSONISED PARTICLE PHAGOCYTOSIS (1983) (104)
Natural and engineered disorders of lymphocyte development. (1998) (103)
Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP. (2013) (102)
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p. (2000) (101)
Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency. (1995) (101)
gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function. (1996) (100)
The Common Cytokine Receptor γ Chain and the Pre-T Cell Receptor Provide Independent but Critically Overlapping Signals in Early α/β T Cell Development (1999) (100)
Dominant‐negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency (2018) (100)
First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. (2011) (99)
Omenn syndrome in an infant with IL7RA gene mutation. (2006) (99)
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. (2014) (99)
Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatment. (2003) (98)
Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. (1994) (98)
Stable and functional lymphoid reconstitution of common cytokine receptor gamma chain deficient mice by retroviral-mediated gene transfer. (2000) (98)
Allogeneic bone marrow transplantation in mevalonic aciduria. (2007) (98)
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. (1997) (97)
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. (2012) (96)
Gene therapy of inherited diseases (2008) (95)
Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies. (2007) (95)
Gene therapy for primary immunodeficiencies: Part 1. (2012) (95)
Independent mutations of the human CD3–ε gene resulting in a T cell receptor/CD3 complex immunodeficiency (1993) (94)
Phenotypic and functional characteristics of human newborns' B lymphocytes. (1990) (94)
Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome (2018) (94)
A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside (2013) (94)
Epidemiology and Outcome of Invasive Fungal Diseases in Patients With Chronic Granulomatous Disease: A Multicenter Study in France (2011) (94)
Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome (2014) (94)
Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency. (1993) (94)
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity (2009) (93)
The Block in Immunoglobulin Class Switch Recombination Caused by Activation-Induced Cytidine Deaminase Deficiency Occurs Prior to the Generation of DNA Double Strand Breaks in Switch μ Region 1 (2003) (92)
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. (1993) (92)
Busulfan disposition below the age of three: alteration in children with lysosomal storage disease. (1993) (92)
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. (2010) (92)
Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients. (1995) (92)
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. (2011) (91)
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. (2000) (91)
Human immunodeficiency virus gp120 and derived peptides activate protein tyrosine kinase p56Ick in human CD4 T lymphocytes (1993) (91)
SPECIFIC ELIMINATION OF ALLOREACTIVE T CELLS BY AN ANTI‐INTERLEUKIN-2 RECEPTOR B CHAIN‐SPECIFIC IMMUNOTOXIN (1990) (90)
Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey. (2004) (89)
Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors. (1997) (88)
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. (1996) (88)
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. (2003) (87)
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome (2010) (86)
The role of cytotoxicity in lymphocyte homeostasis. (2001) (86)
Attenuation of graft-versus-host disease and graft rejection by ex vivo immunotoxin elimination of alloreactive T cells in an H-2 haplotype disparate mouse combination. (1994) (85)
Successful HLA nonidentical bone marrow transplantation in three patients with the leukocyte adhesion deficiency. (1989) (85)
Hyper‐immunoglobulin M syndromes caused by intrinsic B‐lymphocyte defects (2005) (85)
Genetic defects affecting lymphocyte cytotoxicity. (2007) (84)
Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression. (1997) (84)
Dysfunctions of pokeweed mitogen-stimulated T and B lymphocyte responses induced by gammaglobulin therapy. (1981) (82)
Gene therapy for primary immunodeficiencies. (2010) (81)
Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome. (1998) (80)
Gene therapy of RAG-2-/- mice: sustained correction of the immunodeficiency. (2002) (79)
Growth and growth hormone secretion after bone marrow transplantation. (1993) (79)
Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. (2013) (79)
Correction of X-Linked Hyper-IgM Syndrome by Allogeneic Bone Marrow Transplantation (1995) (79)
Active suppression of B lymphocyte maturation by two different newborn T lymphocyte subsets. (1979) (78)
HLA-haploidentical bone marrow transplantation for severe combined immunodeficiency using E rosette fractionation and cyclosporine. (1986) (77)
Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity. (2005) (77)
The mechanisms of immune diversification and their disorders (2003) (77)
Mendelian susceptibility to mycobacterial infection in man. (1998) (77)
Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. (2004) (77)
Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation. (1999) (77)
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. (2019) (76)
Allogeneic Hematopoietic Stem-Cell Transplantation for Leukocyte Adhesion Deficiency (2009) (76)
Gene therapy of X-linked severe combined immunodeficiency (2002) (76)
Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. (1997) (76)
Severe combined immunodeficiencies (1990) (76)
Clonal evidence for the transduction of CD34+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial. (2005) (74)
Gene therapy for primary adaptive immune deficiencies. (2011) (74)
Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register (2005) (73)
Outcome of hematopoietic cell transplantation for DNA double‐strand break repair disorders (2018) (72)
Phosphorylation of Artemis following irradiation‐induced DNA damage (2004) (72)
Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. (2017) (72)
Longitudinal study of 18 children with perinatal LAV/HTLV III infection: attempt at prognostic evaluation. (1986) (72)
Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency. (2011) (72)
Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemia. (2000) (71)
Prevention of infections during primary immunodeficiency. (2014) (71)
Interleukin‐2 (IL‐2) receptor γ chain mutations in X‐linked severe combined immunodeficiency disease result in the loss of high‐affinity IL‐2 receptor binding (1994) (71)
Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis (2004) (71)
Deficiency of the adhesive protein complex lymphocyte function antigen 1, complement receptor type 3, glycoprotein p150,95 in a girl with recurrent bacterial infections. Effects on phagocytic cells and lymphocyte functions. (1985) (71)
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation. (2019) (71)
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) (2012) (70)
Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott–Aldrich syndrome-like platelet defect (2014) (70)
Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. (2015) (69)
Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly. (2010) (68)
Prevention of graft failure by an anti human leukocyte functional antigen 1 monoclonal antibody in hla mismatched bone marrow transplantation (1986) (67)
RANK-Dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations (2011) (67)
ZAP70: a master regulator of adaptive immunity (2010) (67)
Prevalence and clinical impact of norovirus fecal shedding in children with inherited immune deficiencies. (2012) (67)
A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion. (2008) (67)
Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry (2005) (66)
Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity. (2006) (66)
Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies (2009) (66)
Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. (2012) (65)
Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children. (2019) (65)
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. (2011) (65)
Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11. (2013) (65)
Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency. (2014) (64)
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. (2011) (64)
Signaling pathways involved in the T‐cell‐mediated immunity against Epstein‐Barr virus: Lessons from genetic diseases (2019) (64)
CD4 ligands inhibit the formation of multifunctional transduction complexes involved in T cell activation. (1997) (64)
CD2-induced apoptosis in activated human peripheral T cells: a Fas-independent pathway that requires early protein tyrosine phosphorylation. (1996) (64)
Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients. (2020) (63)
MHC class II deficiency: a disease of gene regulation. (2001) (63)
Correction of congenital erythropoietic porphyria by bone marrow transplantation. (1996) (63)
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. (2014) (62)
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia (2014) (62)
Frequent and Widespread Vascular Abnormalities in Human Signal Transducer and Activator of Transcription 3 Deficiency (2012) (61)
Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1. (2015) (61)
Interaction of HIV gp120 and anti‐CD4 antibodies with the CD4 molecule on human CD4+ T cells inhibits the binding activity of NF‐AT, NF‐χB and AP‐1, three nuclear factors regulating interleukin‐2 gene enhancer activity (1994) (61)
Enteroviral meningoencephalitis in X-linked agammaglobulinemia: intensive immunoglobulin therapy and sequential viral detection in cerebrospinal fluid by polymerase chain reaction. (2000) (61)
Pulmonary manifestations in adult patients with chronic granulomatous disease (2015) (60)
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation. (2015) (60)
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. (2009) (60)
Characteristics of antigen‐independent and antigen‐dependent interaction of dendritic cells with CD4+ T cells (1995) (60)
Two complementation groups account for most cases of inherited MHC class II deficiency. (1994) (60)
Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation (1991) (60)
Human TCR α/β+ CD4−CD8− Double-Negative T Cells in Patients with Autoimmune Lymphoproliferative Syndrome Express Restricted Vβ TCR Diversity and Are Clonally Related to CD8+ T Cells1 (2008) (59)
Gene therapy of primary T cell immunodeficiencies. (2013) (59)
Description of an adenovirus A31 outbreak in a paediatric haematology unit (2006) (59)
Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort (2015) (59)
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis (2003) (58)
A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice. (2015) (58)
Development of immunologic functions after bone marrow transplantation in 33 patients with severe combined immunodeficiency. (1989) (58)
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells. (2008) (58)
Allogeneic bone marrow transplantation for children with acute lymphoblastic leukemia in first remission: a cooperative study of the Groupe d'Etude de la Greffe de Moelle Osseuse. (1989) (58)
Somatic genetic rescue in Mendelian haematopoietic diseases (2019) (57)
Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation (1997) (57)
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH) (2008) (57)
Human MSH6 Deficiency Is Associated with Impaired Antibody Maturation (2012) (57)
LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function (2015) (56)
Hyper-IgM syndromes (2006) (56)
CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study. (2015) (56)
Phase accélérée de la maladie de Chediak-Higashi (1989) (55)
DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIA (1988) (55)
Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency (2006) (55)
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. (2016) (54)
Treatment of Omenn syndrome by bone marrow transplantation. (1995) (54)
Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review). (1999) (54)
CD40 ligand expression deficiency in a female carrier of the X‐linked hyper‐IgM syndrome as a result of X chromosome lyonization (1999) (54)
Activation‐induced cytidine deaminase: structure–function relationship as based on the study of mutants (2006) (54)
Loss of RASGRP1 in humans impairs T‐cell expansion leading to Epstein‐Barr virus susceptibility (2018) (53)
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. (2016) (53)
Lack of detectable defect in DNA double‐strand break repair and DNA‐dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts (1996) (53)
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study (2018) (53)
Hematopoietic stem cell transplantation in patients with severe Langerhans cell histiocytosis and hematological dysfunction: Experience of the French Langerhans Cell Study Group (2003) (52)
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1 (1999) (52)
γc Gene Transfer in the Presence of Stem Cell Factor, FLT-3L, Interleukin-7 (IL-7), IL-1, and IL-15 Cytokines Restores T-Cell Differentiation From γc(−) X-Linked Severe Combined Immunodeficiency Hematopoietic Progenitor Cells in Murine Fetal Thymic Organ Cultures (1998) (52)
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis (2017) (51)
The role of lymphocyte function‐associated antigen 1 (LFA‐1) in the adherence of T lymphocytes to B lymphocytes (1988) (51)
Leukocyte adhesion. (1993) (50)
Three-dimensional Clustering of Human RAG2 Gene Mutations in Severe Combined Immune Deficiency* (2000) (50)
Immunosuppressive properties of synthetic peptides derived from CD4 and HLA-DR antigens (1988) (50)
Activation of the Janus kinase 3-STAT5a pathway after CD40 triggering of human monocytes but not of resting B cells. (1999) (49)
Corrigendum: Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott–Aldrich syndrome-like platelet defect (2014) (49)
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. (2010) (49)
Gene therapy of severe combined immunodeficiencies (2002) (49)
Gene therapy for inherited immunodeficiency (2014) (48)
Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France (2017) (48)
Griscelli syndrome types 1 and 2. (2002) (48)
Haematopoietic stem cell transplantation for SCID patients: where do we stand? (2013) (48)
Adenovirally transduced dendritic cells induce bispecific cytotoxic T lymphocyte responses against adenovirus and cytomegalovirus pp65 or against adenovirus and Epstein-Barr virus EBNA3C protein: a novel approach for immunotherapy. (2002) (48)
Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations (2013) (48)
Early-onset autoimmunity associated with SOCS1 haploinsufficiency (2020) (48)
CD3 deficiencies (2005) (48)
Haematopoietic stem cell transplantation for refractory Langerhans cell histiocytosis: outcome by intensity of conditioning (2015) (48)
Impact of HLA matching on outcome of hematopoietic stem cell transplantation in children with inherited diseases: a single-center comparative analysis of genoidentical, haploidentical or unrelated donors (2004) (48)
Contribution of high‐throughput DNA sequencing to the study of primary immunodeficiencies (2014) (48)
Regulation of T helper‐B lymphocyte adhesion through CD4‐HLA class II interaction (1990) (48)
Separation of a population of human T lymphocytes that bind prostaglandin E2 and exert a suppressor activity. (1985) (47)
Genetic study of a new X-linked recessive immunodeficiency syndrome. (1992) (47)
Human TCR alpha/beta+ CD4-CD8- double-negative T cells in patients with autoimmune lymphoproliferative syndrome express restricted Vbeta TCR diversity and are clonally related to CD8+ T cells. (2008) (47)
Artemis sheds new light on V(D)J recombination (2004) (47)
Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice. (2016) (47)
CLOSE LINKAGE OF HYPERVARIABLE MARKER DXS255 TO DISEASE LOCUS OF WISKOTT-ALDRICH SYNDROME (1989) (47)
Bone marrow transplantation from genetically HLA-nonidentical donors in children with fatal inherited disorders excluding severe combined immunodeficiencies: use of two monoclonal antibodies to prevent graft rejection. (1996) (47)
Treatment of an infant with X‐linked severe combined immunodeficiency (SCID‐X1) by gene therapy in Australia (2005) (46)
Gene therapy for human severe combined immunodeficiencies. (2001) (46)
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. (2018) (46)
Inolimomab in Steroid-Refractory Acute Graft-versus-Host Disease Following Allogeneic Hematopoietic Stem Cell Transplantation: Retrospective Analysis and Comparison with Other Interleukin-2 Receptor Antibodies (2005) (46)
Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation. (2015) (46)
Republication de : Recommandations de bonne pratique pour la prise en charge de la maladie veineuse thromboembolique chez l’adulte. Version courte (2019) (45)
Primary T-cell immunodeficiencies. (1993) (45)
Gene therapy for severe combined immunodeficiencies and beyond (2019) (45)
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair (2007) (45)
Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). (2004) (45)
LMO2 and gene therapy for severe combined immunodeficiency. (2004) (45)
Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: a report from the European Group for BMT and the European Group for Immunodeficiency. (1994) (44)
Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells (2019) (44)
Bone marrow transplantation for primary immunodeficiency diseases. (2010) (44)
Clinical and immunologic phenotype associated with activated ă phosphoinositide 3-kinase delta syndrome 2: A cohort study (2016) (44)
Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome (2006) (44)
Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. (2012) (44)
Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study. (2014) (43)
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. (2013) (43)
Mouse macrophage development in the absence of the common γ chain: defining receptor complexes responsible for IL‐4 and IL‐13 signaling (1997) (43)
Role of IL-6 in promoting growth of human EBV-induced B-cell tumors in severe combined immunodeficient mice. (1994) (42)
A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency. (2015) (42)
Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients. (2014) (42)
TREATMENT OF CENTRAL NERVOUS SYSTEM B LYMPHOPROLIFERATIVE SYNDROME BY LOCAL INFUSION OF A B CELL‐SPECIFIC MONOCLONAL ANTIBODY (1992) (42)
Insertion sites in engrafted cells cluster within a limited repertoire of genomic areas after gammaretroviral vector gene therapy. (2011) (42)
Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients (2002) (41)
Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. (1995) (41)
Influence of cytokines and cellular interactions on the glucocorticoid-induced Ig (E, G, A, M) synthesis of peripheral blood mononuclear cells. (1991) (41)
Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients. (2008) (41)
Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes. (2007) (41)
PREVENTION OF BONE MARROW AND CARDIAC GRAFT REJECTION IN AN H‐2 HAPLOTYPE DISPARATE MOUSE COMBINATION BY AN ANTI‐LFA-1 ANTIBODY (1995) (40)
Control of human B cell tumor growth in severe combined immunodeficiency mice by monoclonal anti-B cell antibodies. (1992) (40)
Human leucocyte antigen‐identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft‐versus‐host disease and pre‐existing viral infections (2006) (40)
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells. (2004) (40)
Is normal hematopoiesis maintained solely by long-term multipotent stem cells? (2011) (40)
Interferon gamma for chronic granulomatous disease. (1991) (40)
Identification of the defective NADPH‐oxidase component in Chronic Granulomatous Disease: a study of 57 European families (1992) (39)
Sam68 association with p120GAP in CD4+ T cells is dependent on CD4 molecule expression. (1998) (39)
Human severe combined immunodeficiency disease: phenotypic and functional characteristics of peripheral B lymphocytes. (1990) (39)
Immune reconstitution after haematopoietic stem cell transplantation: obstacles and anticipated progress. (2009) (39)
Laronidase for Cardiopulmonary Disease in Hurler Syndrome 12 Years After Bone Marrow Transplantation (2010) (38)
Treatment of Familial Hemophagocytic Lymphohistiocytosis With Bone Marrow Transplantation From HLA Genetically Nonidentical Donors (1997) (38)
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome (2017) (38)
Treatment of Familial Hemophagocytic Lymphohistiocytosis With Bone Marrow Transplantation From HLA Genetically Nonidentical Donors (1997) (38)
Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. (2011) (38)
Interaction of zinc ions with human peripheral blood mononuclear cells. (1996) (38)
Efficacy of gene therapy for SCID is being confirmed (2004) (38)
Partial engraftment of donor bone marrow cells associated with long‐term remission of haemophagocytic lymphohistiocytosis (1993) (38)
Defective handling of mannan by monocytes in patients with chronic mucocutaneous candidiasis resulting in a specific cellular unresponsiveness. (1982) (38)
RASGRP1 mutation in autoimmune lymphoproliferative syndrome‐like disease (2017) (37)
Changes in height, weight and plasma leptin after bone marrow transplantation (2000) (37)
Real-Time Definition of Non-Randomness in the Distribution of Genomic Events (2007) (37)
Defective cytotoxic granule-mediated cell death pathway impairs T lymphocyte homeostasis (2003) (37)
Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair (2010) (37)
Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. (1993) (36)
Defective self-reactive antibody repertoire of serum IgM in patients with hyper-IgM syndrome. (1999) (36)
gp160 of HIV or anti‐CD4 monoclonal antibody ligation of CD4 induces inhibition of JNK and ERK‐2 activities in human peripheral CD4+ T lymphocytes (1997) (36)
Small intestinal transplantation in a child using cyclosporine. (1988) (36)
RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia. (2014) (36)
Inhibin B and anti-Müllerian hormone as markers of gonadal function after hematopoietic cell transplantation during childhood (2011) (36)
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B (2000) (36)
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex (2015) (36)
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. (1996) (35)
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey (2016) (35)
Somatic Hypermutation Shapes the Antibody Repertoire of Memory B Cells in Humans (2001) (35)
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. (1990) (35)
Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations. (2021) (35)
Clinical consequences and treatment of primary immunodeficiency syndromes characterized by functional T and B lymphocyte anomalies (combined immune deficiency). (1994) (34)
GF109203X, a specific PKC inhibitor, abrogates anti-CD3 antibody-induced upregulation of CD4+ T cell adhesion to B cells. (1993) (34)
Clonal tracking in gene therapy patients reveals a diversity of human hematopoietic differentiation programs. (2020) (34)
The V(D)J Recombination/DNA Repair Factor Artemis Belongs to the Metallo‐β‐Lactamase Family and Constitutes a Critical Developmental Checkpoint of the Lymphoid System (2003) (33)
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. (2012) (33)
Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. (2019) (33)
Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data. (2015) (33)
Long-term human T-helper lines producing specific helper factor reactive to influenza virus (1981) (33)
Langerhans cell deficiency in reticular dysgenesis. (2000) (33)
Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. (1994) (32)
Reduced immunoglobulin class switch recombination in the absence of Artemis. (2009) (32)
Frequent and widespread vascular abnormalities in human STAT3 deficiency (2011) (32)
A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage. (1996) (32)
Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. (1992) (32)
Normal CD40‐mediated activation of monocytes and dendritic cells from patients with hyper‐IgM syndrome due to a CD40 pathway defect in B cells (1998) (32)
Gene Therapy of X-Linked Severe Combined Immunodeficiency (2002) (32)
The management of chronic granulomatous disease (1993) (32)
T cell clones from an X-linked hyper-immunoglobulin (IgM) patient induce IgE synthesis in vitro despite expression of nonfunctional CD40 ligand (1994) (32)
A retrospective single-center study of clinical presentation and outcome in 117 patients with severe combined immunodeficiency. (1993) (32)
Bone marrow cells in X-linked agammaglobulinemia express pre-B-specific genes (lambda-like and V pre-B) and present immunoglobulin V-D-J gene usage strongly biased to a fetal-like repertoire. (1993) (32)
PROSPECTIVE STUDY OF THE OCCURRENCE OF MONOCLONAL GAMMAPATHIES FOLLOWING BONE MARROW TRANSPLANTATION IN YOUNG CHILDREN (1990) (31)
PROMIDIS&agr;: A T‐cell receptor &agr; signature associated with immunodeficiencies caused by V(D)J recombination defects (2019) (31)
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. (2009) (31)
Primary immunodeficiencies suggest redundancy within the human immune system (2016) (31)
Optimization of retroviral gene transfer protocol to maintain the lymphoid potential of progenitor cells. (2001) (31)
Deregulated TCRαβ T cell population provokes extramedullary hematopoiesis in mice deficient in the common γ chain (1997) (31)
Mineral metabolism in infants with malignant osteopetrosis: Heterogeneity in plasma 1,25‐dihydroxyvitamin D levels and bone histology (1992) (31)
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency (2002) (31)
PROSPECTIVE STUDY OF THE OCCURRENCE OF MONOCLONAL GAMMAPATHIES FOLLOWING BONE MARROW TRANSPLANTATION IN YOUNG CHILDREN (1990) (31)
Growth after bone marrow transplantation in young children conditioned with chemotherapy alone (1997) (31)
LFA‐1 β‐chain synthesis and degradation in patients with leukocyte‐adhesive proteins deficiency (1987) (31)
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons (2018) (30)
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. (2017) (30)
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II (2003) (30)
Integration of Retroviruses: A Fine Balance between Efficiency and Danger (2005) (30)
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis (2021) (30)
Graft vs graft reaction resulting in the elimination of maternal cells in a SCID patient with maternofetal GVHd after an HLA identical bone marrow transplantation. (1987) (30)
Sensitivity of Epstein‐Barr virus‐induced B cell tumor to apoptosis mediated by anti‐CD95/Apo‐1/fas antibody (1997) (29)
Detection of GM‐CSF in the sera of children with Langerhans’ cell histiocytosis (1994) (29)
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling. (2015) (29)
Genetic and molecular definition of complementation group D in MHC class II deficiency. (1998) (29)
Immunodeficiency Diseases: Multiple roles for ZAP-70 (1994) (29)
Resistance of children to Covid-19. How? (2020) (29)
A Syndrome Involving Intrauterine Growth Retardation, Microcephaly, Cerebellar Hypoplasia, B Lymphocyte Deficiency, and Progressive Pancytopenia (2000) (29)
T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient (1996) (29)
Loss of ARHGEF1 causes a human primary antibody deficiency (2019) (28)
Defective membrane expression of the LFA‐1 complex may be secondary to the absence of the β chain in a child with recurrent bacterial infection (1986) (28)
Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack (2017) (28)
Characterization of two new CD18 alleles causing severe leukocyte adhesion deficiency (1993) (28)
Les polysaccharides microbiens d’origine marine et leur potentiel en thérapeutique humaine (2004) (27)
A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions. (2009) (27)
[Gene therapy of severe combined immunodeficiency disease: proof of principle of efficiency and safety issues. Gene therapy, primary immunodeficiencies, retrovirus, lentivirus, genome]. (2005) (27)
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. (2019) (27)
Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA. (1985) (27)
Improving immune reconstitution while preventing graft-versus-host disease in allogeneic stem cell transplantation. (2002) (27)
Defective complement receptors (CR1 and CR3) on erythrocytes and leukocytes of factor I (C3b-inactivator) deficient patients. (1986) (27)
Multicentric Castleman Disease in an HHV8-Infected Child Born to Consanguineous Parents With Systematic Review (2012) (27)
Specific in vitro antimannan-rich antigen of Candida albicans antibody production by sensitized human blood lymphocytes. (1983) (27)
Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: a retrospective, single-center study of 21 patients diagnosed using molecular analysis. (2011) (27)
[Gene therapy of x-linked adrenoleukodystrophy using hematopoietic stem cells and a lentiviral vector]. (2010) (26)
Human immunodeficiency virus gp120 and derived peptides activate protein tyrosine kinase p56lck in human CD4 T lymphocytes. (1993) (26)
T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency (2018) (26)
Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex (2016) (26)
Temporal and Spatial Compartmentalization of Drug-Resistant Cytomegalovirus (CMV) in a Child with CMV Meningoencephalitis: Implications for Sampling in Molecular Diagnosis (2013) (26)
Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1) (2017) (26)
Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease (2017) (26)
Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency. (2013) (26)
Tissue-specific Activity of the γc Chain Gene Promoter Depends upon an Ets Binding Site and Is Regulated by GA-binding Protein* (1996) (26)
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs. (2011) (26)
Treatment of steroid-resistant acute graft-versus-host disease with an anti-IL-2-receptor monoclonal antibody (BT 563) in children who received T cell-depleted, partially matched, related bone marrow transplants. (1994) (26)
The European Rare Diseases Therapeutic Initiative (2005) (26)
Severe cutaneous bacillus Calmette–Guérin infection in immunocompromised children: the relevance of skin biopsy (2013) (26)
Adenoviral Infection Presenting as an Isolated Central Nervous System Disease without Detectable Viremia in Two Children after Stem Cell Transplantation (2011) (25)
Gene therapy of severe combined immunodeficiencies (2001) (25)
POSSIBLE TRANSMISSION OF A HUMAN LYMPHOTROPIC RETROVIRUS (LAV) FROM MOTHER TO INFANT WITH AIDS (1984) (25)
p56lck, LFA-1 and PI3K but not SHP-2 interact with GM1- or GM3-enriched microdomains in a CD4-p56lck association-dependent manner. (2007) (25)
Phosphatidylinositol 3-kinase participates in p56(lck)/CD4-dependent down-regulation of LFA-1-mediated T cell adhesion. (1996) (25)
Bone marrow transplantation for immunodeficiencies and osteopetrosis. (1991) (25)
Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series. (2013) (25)
Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature (2019) (25)
Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis (2015) (24)
Lack of selective Vβ deletion in peripheral CD4+ T cells of human immunodeficiency virus‐infected infants (1993) (24)
Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome (2011) (24)
Treatment of juvenile chronic myelomonocytic leukemia by allogeneic bone marrow transplantation. (1994) (24)
Mutation in the Class II trans-Activator Leading to a Mild Immunodeficiency1 (2001) (24)
Role of the LFA3-CD2 interaction in human specific B cell differentiation. (1988) (24)
Haemopoietic stem-cell transplantation for juvenile chronic arthritis (1999) (24)
Regulation of CD23 expression, soluble CD23 release and immunoglobulin synthesis of peripheral blood lymphocytes by glucocorticoids. (1990) (24)
Dealing with a mucosal viral pandemic: lessons from COVID-19 vaccines (2022) (24)
Thirty years of bone marrow transplantation for severe combined immunodeficiency. (1999) (24)
Spontaneous IgM Autoantibody Production In Vitro by B Lymphocytes of Normal Human Neonates (1992) (23)
[Allogeneic bone marrow transplantation in congenital erythropoietic porphyria. Gunther's disease]. (1998) (23)
Ligands of CD4 inhibit the association of phospholipase Cγ1 with phosphoinositide 3 kinase in T cells: regulation of this association by the phosphoinositide 3 kinase activity (1998) (23)
Prevalence of primary immunodeficiencies in France is underestimated. (2017) (23)
The last 80 years in primary immunodeficiency: how far have we come, how far need we go? (2006) (23)
Human immunodeficiency: Connecting STAT3, Th17 and human mucosal immunity (2008) (23)
Have we seen the last variant of severe combined immunodeficiency? (2003) (22)
Epstein-Barr virus-associated hemophagocytic syndrome: clinical presentation and treatment. (1989) (22)
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults (2013) (22)
Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency. (2010) (22)
CD34+ stem cell top‐ups without conditioning after initial haematopoietic stem cell transplantation for correction of incomplete haematopoietic and immunological recovery in severe congenital immunodeficiencies (2006) (22)
Improving immune reconstitution while preventing GvHD in allogeneic stem cell transplantation. (2005) (22)
Donor T lymphocyte infusion following ex vivo depletion of donor anti-host reactivity by a specific anti-interleukin-2 receptor P55 chain immunotoxin. (2002) (21)
Functional study of residual T lymphocytes after specific elimination of alloreactive T cells by a specific anti-interleukin-2 receptor Bk chain immunotoxin. (1993) (21)
Direct activation of human B lymphocytes by Candida albicans-derived mannan antigen. (1989) (21)
Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency (2017) (21)
Inhibition of CD4+ T cell activation and adhesion by peptides derived from the gp160. (1991) (21)
Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases. (2008) (21)
[The accelerated phase of Chediak-Higashi syndrome]. (1989) (21)
Gene therapy of severe combined immunodeficiencies (2000) (21)
An influenza virus matrix protein‐specific human T cell line with helper activity for in vitro anti‐hemagglutinin antibody production (1982) (21)
Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency. (2019) (21)
Detection of donor‐derived Langerhans cells in MHC class II immunodeficient patients after allogeneic bone marrow transplantation (1997) (20)
The C-Terminal Domain of Cernunnos/XLF Is Dispensable for DNA Repair In Vivo (2008) (20)
Recent advances in understanding the pathophysiology of primary T cell immunodeficiencies. (2015) (20)
Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype (1988) (20)
Genetic correction of cultured T cells from an adenosine deaminase‐deficient patient: Characteristics of non‐transduced and transduced T cells (1992) (20)
Regulation of LFA‐1‐mediated T cell adhesion by CD4 (1991) (20)
Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. (2009) (19)
Immunodeficiency due tomutations in ORAI 1 and STIM 1 (2010) (19)
The murine interleukin‐2 receptor γ chain gene: Organization, chromosomal localization and expression in the adult thymus (1994) (19)
Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection (2020) (19)
Burkholderia pseudomallei infection in chronic granulomatous disease (2006) (19)
Self‐tolerance to host and donor following HLA‐mismatched bone marrow transplantation (1986) (19)
Deregulated TCR alpha beta T cell population provokes extramedullary hematopoiesis in mice deficient in the common gamma chain. (1997) (19)
Gene therapy for primary immunodeficiencies (2015) (19)
Immunodeficiencies of genetic origin. (1995) (18)
Hematopoietic cell transplantation in severe combined immunodeficiency: the SCETIDE 2006-2014 European cohort. (2021) (18)
IL‐7 effect on immunological reconstitution after HSCT depends on MHC incompatibility (2004) (18)
Both LFA‐1‐positive and ‐deficient T cell clones require the CD2/LFA‐3 interaction for specific cytolytic activation (1992) (18)
Four new adenosine deaminase mutations, altering a zinc‐binding histidine, two conserved alanines, and a 5′ splice site (1995) (18)
Competition within the early B-cell compartment conditions B-cell reconstitution after hematopoietic stem cell transplantation in nonirradiated recipients. (2006) (18)
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation. (2020) (18)
Fine mapping of the human SCIDX1 locus at Xq12-13.1. (1993) (18)
Hyper-immunoglobulin-M syndromes caused by an intrinsic B cell defect (2003) (17)
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations. (2016) (17)
Massive expansion of maternal T cells in response to EBV infection in a patient with SCID-Xl. (2012) (17)
Evaluation of a new mobile system for protecting immune-suppressed patients against airborne contamination. (2007) (17)
Molecular Events Associated with CD4-mediated Down-regulation of LFA-1-dependent Adhesion* (2002) (17)
Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability (2018) (17)
Restriction of the in vitro anti-mannan antibody response by HLA-DQ molecules. (1986) (17)
Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period. (1998) (17)
Cost of allogeneic bone marrow transplantation in four diseases. (1989) (17)
Binding of CD4 ligands induces tyrosine phosphorylation of phosphatidylinositol-3 kinase p110 subunit. (1998) (17)
Retrieval of vector integration sites from cell-free DNA (2021) (17)
Persistence of natural killer cells with expansion of a hypofunctional CD56-CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3-deficient severe combined immunodeficiency. (2013) (16)
A study of 25 patients with chronic granulomatous disease: A new classification by correlating respiratory burst, cytochrome b, and flavoprotein (1986) (16)
[Gene therapy of severe combined immunodeficiencies]. (2000) (16)
In vivo infusion of anti LFA-1 antibody in HLA non-identical bone marrow transplantation in children: serum concentrations and biological effects. (1989) (16)
Mannan-specific and mannan-induced T-cell suppressive activity in patients with chronic mucocutaneous candidiasis (1987) (16)
Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study (2017) (16)
Defective priming of the phagocyte oxidative burst in a child with recurrent intracellular infections. (1999) (16)
Characterization of antigen‐specific repertoire diversity following in vitro restimulation by a recombinant adenovirus expressing human cytomegalovirus pp65 (2003) (16)
Ichthyosis as the dermatological phenotype associated with TTC7A mutations (2016) (16)
Cultured circulating mononuclear cells from osteopetrotic infants express the osteoclast‐associated vitronectin receptor and form multinucleated cells in response to 1,25‐dihydroxyvitamin D3 (1993) (16)
Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA) (1987) (16)
BTKbase: a database of XLA-causing mutations. International Study Group. (1995) (15)
HLA class II restriction governing cell cooperation between antigen‐specific helper T lymphocytes, B lymphocytes and monocytes for in vitro antibody production to influenza virus (1985) (15)
Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis. (2011) (15)
Immunodeficiency associated with defective expression of the T-cell receptor-CD3 complex. (1990) (15)
Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts. (1999) (15)
Combined immunodeficiency with defective expression of HLA: modulation of an abnormal HLA synthesis and functional studies. (1983) (15)
Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry. (2019) (15)
[Hypogammaglobulinemia G and A with hypergammaglobulinemia M. Apropos of 12 cases]. (1990) (15)
Gene therapy for immunodeficiency diseases. (2004) (15)
Isoforms of the class II transactivator protein. (2002) (15)
Inositol 1,4,5-trisphosphate- and arachidonic acid-induced calcium mobilization in T and B lymphocytes. (1990) (14)
SMOULDERING T LYMPHOMA RELATED TO HTLV-I IN A SICILIAN CHILD (1985) (14)
Specific binding of antigen onto human T lymphocytes. (1986) (14)
Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis. (2020) (14)
gammac gene transfer in the presence of stem cell factor, FLT-3L, interleukin-7 (IL-7), IL-1, and IL-15 cytokines restores T-cell differentiation from gammac(-) X-linked severe combined immunodeficiency hematopoietic progenitor cells in murine fetal thymic organ cultures. (1998) (14)
Regulation of CD23 in allergic diseases. (1991) (14)
Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID (2019) (14)
LIMBIC ENCEPHALITIS AS PRESENTATION OF A SAP DEFICIENCY (2007) (14)
T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient. (1996) (14)
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency. (2020) (14)
Defective monocyte functions in a child with fatal disseminated BCG infection. (1980) (14)
Differential sensitivity of Jurkat and primary T cells to caspase‐independent cell death triggered upon Fas stimulation (2002) (14)
Loss of p19Arf in a Rag1(-/-) B-cell precursor population initiates acute B-lymphoblastic leukemia. (2011) (14)
X-linked immunodeficiencies: clues to genes involved in T- and B-cell differentiation. (1991) (14)
Cell-cell interactions for CD23 expression and soluble CD23 release from peripheral lymphocytes of atopic donors. (1989) (13)
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT inborn errors working party analysis. (2022) (13)
Benefit Corporation: a path to affordable gene therapies? (2019) (13)
Primary immunodeficiency-related bronchiectasis in adults: comparison with bronchiectasis of other etiologies in a French reference center (2019) (13)
What do primary immunodeficiencies tell us about the essentiality/redundancy of immune responses? (2017) (13)
Efficiency of hydroxychloroquine in the treatment of granulomatous complications in chronic granulomatous disease. (2008) (13)
Stem cell transplantation for primary immunodeficiencies: the European experience (2014) (13)
Hodgkin lymphoma in 2 children with chronic granulomatous disease. (2011) (13)
Anti-LFA-1 antibody as immunosuppressive reagent in transplantation. (1991) (13)
Primary Immunodeficiency Diseases: Natural Mutant Models for the Study of the Immune System (2002) (12)
Alemtuzumab as First Line Treatment in Children with Familial Lymphohistiocytosis (2019) (12)
Severe combined immunodeficiency with quantitatively normal but abnormally differentiated T lymphocytes. (1981) (12)
Bone marrow transplantation for metabolic diseases with severe neurological symptoms. (1991) (12)
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing. (2020) (12)
Hypoglycaemia induced by antibodies to insulin receptor following a bone marrow transplantation in an immunodeficient child (1989) (12)
Hepatic GVHD after HLA‐haploidentical bone marrow transplantation in children with severe combined immunodeficiency: the effect of ursodeoxycholic acid (1997) (12)
Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells (2020) (12)
Effect of cytokines on spontaneous and allergen-induced CD23 expression, sCD23 release and Ig(E,G) synthesis from peripheral blood lymphocytes. (1989) (12)
Epidermal langerhans' cells in children with primary t‐cell immune deficiencies (1997) (12)
Building networks for immunodeficiency diseases and immunology training (2008) (12)
Megaloblastic Anemia and Immune Abnormalities in a Patient with Methionine Synthase Deficiency (1987) (12)
Combined immunodeficiency with abnormal expression of MHC class II genes. (1989) (12)
Related Myeloablative Stem Cell Transplantation (SCT) to Cure Sickle Cell Anemia (SCA): Update of French Results (2010) (12)
Outcome of chronic granulomatous disease ‐ Conventional treatment vs stem cell transplantation (2020) (11)
A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency (2020) (11)
Sirolimus as Maintenance Treatment in an Infant With Life-threatening Multiresistant Pure Red Cell Anemia/Autoimmune Hemolytic Anemia (2014) (11)
X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers (1991) (11)
IFNgR1, a human mycobacterial susceptibility candidate gene (1997) (11)
[Munc13-4 is essential for cytolytic granule fusion]. (2004) (11)
Pulmonary hypertension after bone marrow transplantation in children (2019) (11)
A safer approach to the clinical use of cyclosporine: the predose calculation. (1986) (11)
Outcome of patients activating an unrelated donor search for severe acquired aplastic anemia (2013) (11)
Autoimmune lymphoproliferative syndromes (ALPS): models for the study of peripheral tolerance. (2000) (11)
Possible T4‐HLA class II interaction as an essential event in antigen‐specific helper T lymphocytedependent B cell activation (1986) (11)
Modulation of cell-bound and soluble CD23, spontaneous and ongoing IgE synthesis of human peripheral blood mononuclear cells by soluble IL-4 receptors and the partial antagonistic IL-4 mutant protein IL-4 (Y124D). (1995) (11)
Enhanced plasminogen-activator production by leukocytes in the human and murine Chediak-Higashi syndrome. (1985) (11)
Brief report: prenatal diagnosis of X-linked hyper-IgM syndrome. (1994) (11)
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? (2001) (11)
Modulation of in vitro immunoglobulin synthesis of human peripheral blood mononuclear cells by nicotine and cotinine (1994) (10)
Platelets are the Achilles' heel of Wiskott-Aldrich syndrome. (2019) (10)
BONE MARROW TRANSPLANTATION FOLLOWING BUSULFAN, CYCLOPHOSPHAMIDE AND HIGH DOSE CYTOSINE‐ARABINOSIDE AS TREATMENT FOR INFANTS WITH TRANSLOCATION (4;11) ACUTE LEUKAEMIA (1989) (10)
Molecular Basis of Major Histocompatibility Complex Class II Deficiency (2013) (10)
Down regulation of T-cell adhesion by CD4. (1991) (10)
Gene therapy: Repair and replace (2014) (10)
Inability of newborns' or pregnant women's monocytes to suppress pokeweed mitogen-induced responses. (1982) (10)
Opposing effects of protein tyrosine kinase inhibitors on the monoclonal antibody induced internalization of CD3 and CD4 antigens (1991) (10)
Role of LFA-1, CD2, VLA-5/CD29, and CD43 surface receptors in CD4+ T cell adhesion to B cells. (1994) (10)
[Hypoplasia of cartilage and hair with combined immune deficiency]. (1989) (10)
Brief report FAS-L, IL-10, and double-negative CD4 (cid:1) CD8 (cid:1) TCR (cid:2) / (cid:3) (cid:4) T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function (2009) (10)
Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing (2017) (10)
Leucémies aiguës néonatales: à propos de sept observations (1995) (9)
Hydroxychloroquine : une nouvelle approche thérapeutique des manifestations thrombotiques du syndrome des antiphospholipides (2010) (9)
Omenn syndrome: a rare case of neonatal erythroderma. (2007) (9)
Human PMS 2 defi ciency is associated with impaired immunoglobulin class switch recombination (2008) (9)
Propionibacterium acnes chest infections in patients with chronic granulomatous disease: case reports. (2002) (9)
Circulating endothelial cells as markers of endothelial dysfunction during hematopoietic stem cell transplantation for pediatric primary immunodeficiency. (2014) (9)
Antigen-independent adhesion of CD45RA (naive) and CD45RO (memory) CD4 T cells to B cells. (1992) (9)
Gene therapy: some results, many problems to solve. (2001) (9)
Topoisomerase 2β mutation impairs early B cell development. (2020) (9)
Diffuse large B-cell lymphoma in hyperimmunoglobulinemia E syndrome. (2007) (9)
Genetic analysis of the human CD3-epsilon gene in a T cell receptor/CD3 immunodeficiency. (1993) (9)
Advances in adoptive immunotherapy to accelerate T-cellular immune reconstitution after HLA-incompatible hematopoietic stem cell transplantation. (2010) (9)
Lymphoproliferative disease in patients with Wiskott-Aldrich syndrome: Analysis of the French Registry of Primary Immunodeficiencies. (2019) (9)
[Ten years of gene therapy: thoughts and perspectives]. (2010) (9)
The International Union of Immunological Societies (IUIS) Primary Immunodeficiency Diseases (PID) Classification Committee (2008) (9)
Zidovudine therapy in children with acquired immunodeficiency syndrome. (1988) (9)
Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency (2017) (9)
Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. (1992) (9)
The European Group for Blood and Marrow Transplantation (EBMT): a report from the president and the chairmen of the working parties. (1996) (8)
Prévention du rejet d'allogreffe intestinale par des anticorps antimolécules d'adhésion dans un modèle murin (1998) (8)
A non-XLA primary deficiency causes the earliest known defect of B cell differentiation in humans: a comparison with an XLA case. (1997) (8)
PP60c-src expression in osteoclasts from osteopetrotic children and in giant tumor cells. (1997) (8)
LFA-1 and PI 3 K but not SHP-2 interact with GM 1-or GM 3-enriched microdomains in a CD 4 – p 56 lck association-dependent manner (2007) (8)
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome (2020) (8)
Strategies for retrovirus-based correction of severe, combined immunodeficiency (SCID). (2012) (8)
Impaired T8 lymphocyte-mediated suppressive activity in patients with partial Di George syndrome (1986) (8)
Safety of hematopoietic stem cell transplantation from hepatitis B core antibodies-positive donors with low/undetectable viremia in HBV-naïve children (2014) (8)
Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation (2018) (8)
Down‐regulation of LFA‐1‐mediated T cell adhesion induced by the HIV envelope glycoprotein gp160 requires phosphatidylinositol‐3‐kinase activity (1997) (8)
In vivo infusion of anti-LFA-1 and anti-CD2 antibodies prevents graft failure after HLA partially incompatible bone marrow transplantation in children with high risk acute lymphoblastic leukaemia. (1997) (8)
Leukocyte Adhesion Deficiency (LAD) Syndromes (2005) (8)
Hepatitis E virus in hematopoietic stem cell donors: Towards a systematic HEV screening of donors? (2015) (8)
Stem cell transplantation for immunodeficiency (2004) (8)
THE USE OF MONOCLONAL ANTIBODIES IN ALLOGENEIC BONE MARROW TRANSPLANTATION (1993) (8)
Does haploidentical transplantation in children with primary immunodeficiencies have the potential to exploit donor NK cell alloreactivity? (2004) (8)
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. (2007) (8)
Indications for hemopoietic stem cell transplantation. (2010) (8)
MULTIPLE RELAPSES OF VISCERAL LEISHMANIASIS IN AN ADOLESCENT WITH IDIOPATHIC CD4+ LYMPHOCYTOPENIA ASSOCIATED WITH NOVEL IMMUNOPHENOTYPIC AND MOLECULAR FEATURES (2009) (8)
Blockade of the integrin alphaLbeta2 but not of integrins alpha4 and/or beta7 significantly prolongs intestinal allograft survival in mice. (2000) (8)
Respective Roles and Interactions of T Lymphocyte and PGE2‐Mediated Monocyte Suppressive Activities in Human Newborns and Mothers at the Time of Delivery (1982) (8)
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation (2022) (8)
Gene therapy of severe combined immunodeficiencies: from mice to humans. (2002) (7)
CD4‐induced down‐regulation of T cell adhesion to B cells is associated with localization of phosphatidyl inositol 3‐kinase and LFA‐1 in distinct membrane domains (2004) (7)
Alternative pathways for the development of lymphoid structures in humans (2021) (7)
[Severe combined immune deficiency with hypereosinophilia. Immunologic study of 5 cases]. (1985) (7)
Gene therapy for primary immunodeficiencies. (2011) (7)
Characteristics of antigen-independent and antigen-dependent interaction of dendritic cells with CD4+ T cells. (1995) (7)
Defective transmembrane calcium influx demonstrated in a primary immunodeficiency by video-imaging. (1994) (7)
50th Anniversary of the French Society for Immunology (SFI) (2016) (7)
Differential CD4-dependent inhibition of JNK but not Erk-2 activities in human naive and memory CD4+ T cell populations. (1998) (7)
Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review (2020) (7)
Cautious advance (2000) (7)
Severe aplastic anemia of neonatal onset: a single-center retrospective study of six children. (1998) (7)
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure (2018) (7)
Cytokine control of peripheral-blood CD23 expression and sCD23 release: differential regulation by IL-2 and IL-4. (1990) (7)
T cell activation deficiencies. (1995) (7)
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency (2019) (6)
Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation (2021) (6)
Clinical Phenotype and Long Term Outcome in a Large Cohort of X-Linked Thrombocytopenia (XLT)/Mild Wiskott-Aldrich-Syndrome Patients (2008) (6)
The protein tyrosine kinase p60c-Src is not implicated in the pathogenesis of the human autosomal recessive form of osteopetrosis: a study of 13 children. (1998) (6)
Primary T-lymphocyte immunodeficiencies (2001) (6)
Clinical effects of mutations to CD95 (Fas): relevance to autoimmunity? (2004) (6)
[Gene therapy of children with X-linked severe combined immune deficiency: efficiency and complications]. (2004) (6)
[Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections]. (2012) (6)
Therapy of transplant-related lymphoproliferative diseases. (1993) (6)
Pulmonary hypertension in two severe combined immunodeficiency disease patients posthaematopoietic stem cell transplantation (2004) (6)
Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series (2020) (6)
[Primary immunodeficiency secondary to ZAP-70 deficiency]. (2001) (6)
[Generalized BCG infection, expression of multifactorial deficiency of intramacrophage bactericidal action. Anatomo-clinical study of 11 cases]. (1984) (6)
Human Dendritic Cells Differentiation of CD 40 Ligand-Activated Measles Virus Induces Abnormal (2000) (6)
Peripheral blood stem cell and gene therapy (1999) (5)
Thérapie génique des déficits immunitaires combinés sévères (2000) (5)
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CLINICAL TRIALS AND OBSERVATIONS Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome (2016) (0)
T-Cell Depleted Haematopoietic Stem Cells (HSC) Transplantation with Add Back of CD45RA Negative DLI: About 2 Cases (2012) (0)
CD34+stem cell top-ups without conditioning after initial HSCT for correction of incomplete haematopoietic and immunological recovery in severe congenital immunodeficiencies (2006) (0)
CHRONIC GRANULOMATOUS DISEASE: A HETEROGENEOUS METABOLIC DISORDER OF PHAGOCYTES (1985) (0)
Lymphoma and Chromosomal Instability in Artemis Deficient Mice - A Challenge for Long Term Malignancy Free Survival and Choice of Optimal Conditioning Regimen in Artemis Gene Therapy Trials. (2007) (0)
Circulating Endothelial Cells As a Reliable Marker Of Endothelial Damage In Children Undergoing Hematopoietic Stem Cell Transplantation (2013) (0)
Autosomal Ig CSR Deficiencies Caused by an Intrinsic B-Cell Defect (2013) (0)
Actin dynamics regulation by TTC7A/PI4KIIIα axis limits DNA damage and cell death during leukocyte migration (2021) (0)
Session I: Stem Cell Transplant Issues (2008) (0)
INHERITED DEFICIENCIESCAN AFFECT SEPARATELY THE PLATELET MEMBRANE GLYCOPROTEIN Ilb-IIIa COMPLEX AND THE LEUKOCYTE LFA-1, Mac-1 and pl50,95 COMPLEXES (1987) (0)
Author response for "Outcome of chronic granulomatous disease ‐ conventional treatment versus stem cell transplantation" (2020) (0)
The human radiosensitive T-B-SCID define new gene(s) involved in V(D)J recombination and DNA repair (1997) (0)
[The vaccination in danger?] (2017) (0)
Langerhans Cell Histiocytosis with Hematological Dysfunction, Refractory to Standard Therapy Could Be Cured by an Association of 2-CdA and Ara-C: Concordant Results from the Observational Survey of Treated Patients and from a Nation Wide Registry. (2007) (0)
Gene therapy of SCID, now up to 3 ! (2023) (0)
[Some lessons from 18 months of COVID vaccination]. (2022) (0)
The rationale for gene therapy in primary T cell immunodeficiencies (2013) (0)
Monocytes But Not of Resting B Cells Pathway After CD40 Triggering of Human Activation of the Janus Kinase 3-STAT5a (1999) (0)
The Discovery of the Familial Hemophagocytosis Syndromes (2014) (0)
A new IV busulfan fixed dosing for better exposure targeting in children undergoing allogeneic or autologous hematopoietic stem cell transplantation (2005) (0)
Severe Combined Immunodeficiencies in Humans (1993) (0)
immunodeficiency single-center cohort of 90 patients with severe combined Long-term outcome after hematopoietic stem cell transplantation of a (2013) (0)
Correction of SCID-XI by gene transfer: Current state and future plans. (2003) (0)
[Is it wrong to use immunostimulants in pediatric practice?]. (1999) (0)
Genetically restricted and unrestricted antigen specific helper factors (1982) (0)
A ROLE FOR INO80, A CORE PROTEIN OF A CHROMATIN REMODELING COMPLEX, IN CLASS SWITCH RECOMBINATION (2012) (0)
Activated PI3-Kinase Delta Syndrome: Clinical, Radiological And Laboratory Features Of A Large Cohort. (2015) (0)
Immunodeficiency Syndromes: Gene Therapy (2006) (0)
[Therapeutic innovation for the common good]. (2022) (0)
HLA Mismatched Bone Marrow Transplantation for Severe Combined Immunodeficiency and Other Non Malignant Disorders (1985) (0)
Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β (1992) (0)
Chronic Granulomatous Disease In Patients Reaching Adulthood: A Nationwide Retrospective Study Of 80 Cases In France (2013) (0)
Correction of Artemis Deficiency In Murine Hematopoietic Stem Cell by I-Sce 1 Meganuclease and Artemis Recombination Matrix Mediated Homologous Recombination. (2010) (0)
Abstract session I–Transplantation (2004) (0)
New Perspectives in Genetic Therapies (2018) (0)
Characterization of Post Natal Human Lymphoid Progenitors. (2006) (0)
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey (2016) (0)
[Gene therapy of hereditary immunologic deficiencies]. (1996) (0)
[Primary T lymphocyte immune deficiencies]. (1988) (0)
End of Treatment Peripheral Blood TCR Evaluation for Minimal Residual Disease Evaluation in Peripheral T-Cell Lymphomas (2021) (0)
transplantation: a survey of the European experience, 1993-2002 Treatment of CD40 ligand deficiency by hematopoietic stem cell (2013) (0)
Short title: Outcome of related and unrelated HSCT for SCID (2017) (0)
Genetic of Sporadic Hemophagocytic Lymphohistiocytosis (2019) (0)
Primary T cell immunodeficiency associated with defective CD3-zeta expression (1997) (0)
Haploidentical Allogeneic Versus Gene Modified Autologous Stem Cell Transplantation for Severe Combined Immunodeficiencies (S.C.I.D). The Risk/Benefit Balance Is in Favor of Gene Therapy. (2004) (0)
La transplantation médullaire en pédiatrie. Perspectives (1988) (0)
SCIDs and related disorders (2015) (0)
Impaired Antibody Maturation Human MSH6 Deficiency Is Associated with (2012) (0)
Gene therapy of primary immunodeficiencies. (1998) (0)
single-center report on 10 patients Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a (2011) (0)
Aberrant Microtubule Organization and Wiskott-Aldrich Syndrome-like Defects in Platelets and Megakaryocytes of Profilin1-Deficient Mice (2014) (0)
Section A. T Cell Defects (2014) (0)
Gene therapy for human severe combined immunodeficiencies. (2002) (0)
Inonilomab for Children with Steroid-Refractory Acute Graft-Versus-Host Disease : A Nationale Multicenter Phase II Retrospective Analysis (2013) (0)
Les traitements antithrombotiques (2014) (0)
Thérapie génique des déficits immunitaires héréditaires (1996) (0)
L’hémostase pour les cardiologues : les cibles des anti-agrégants et des anticoagulants (2014) (0)
Different Immunological Pathways Underlie the Immune Response to Pneumococcal Polysaccharides (2017) (0)
Identification d'un défaut partiel en IFNγR1 responsable d'une infection par le BCG et d'une tuberculose (1998) (0)
Immunity, Genetics and Medicine (2015) (0)
Autres techniques moléculaires (2018) (0)
Exploration des anomalies du métabolisme du fer et hémolyse (2018) (0)
Effets pléiotropes du fucoïdane sur la néoangiogenèse induite par les progéniteurs endothéliaux circulants in vivo (2009) (0)
Le dépistage anonyme mais… non gratuit Bilan de 5 années (2017) (0)
Benefit Corporation: a path to affordable gene therapies? (2019) (0)
Prévention du rejet d'allogreffe intestinale par des anticorps anti-LFA-1 et anti-α4 chez la souris (1998) (0)
[Gene therapy for severe combined immunodeficiency linked to chromosome X]. (1997) (0)
Suivi biologique des traitements antithrombotiques (2018) (0)
Lymphohistiocytose familiale : étude rétrospective de 41 observations (1998) (0)
Infection disséminée idiopathique par le BCG : défaut héréditaire d'expression du récepteur à l'interféron gamma (1996) (0)
O3-2 Étude comparative de trois méthodes physiques de séparation cellulaire et résultats de leur application clinique (1998) (0)
DNA Double Strand Breaks in Switch Deficiency Occurs Prior to the Generation of Activation-Induced Cytidine Deaminase Recombination Caused by The Block in Immunoglobulin Class Switch (2003) (0)
Le syndrome d'hyper-IgM de transmission autosomique récessive est dû à un défaut de la protéine AID (activation-induced cytidine deaminase). (2000) (0)
Dilatations des bronches chez les adultes atteints de déficits immunitaires héréditaires humoraux diagnostiqués dans l’enfance (2017) (0)
Le système de l'hémostase dans la modulation de l'angiogenèse (2001) (0)
Cytokine Environement Analysis During Allogeneic Hematopoietic Stem Cell Transplantation for Inherited Diseases (2012) (0)
Birth of gene therapy (2017) (0)
Autres anticorps anti-éléments figurés du sang (2018) (0)
A Human Lymphoid Progenitor Capable of Circulating and Seeding the Thymus. (2007) (0)
L’ataxie-télangiectasie : évolution à long terme et risque néoplasique Étude du registre du centre de référence des déficits immunitaires héréditaires (CEREDIH) (2011) (0)
Examens complémentaires pour l’exploration d’un syndrome hémorragique (2018) (0)
Infections à microorganismes à développement intra-cellulaire chez le nouveau-né et au cours des déficits immunitaires* (1985) (0)
Exploration des pathologies érythrocytaires (2018) (0)
Maladie résiduelle moléculaire (2018) (0)
Prise en charge thérapeutique des granulomes cutanés chez 11 enfants suivis pour déficit immunitaire primitif (2012) (0)
Groupes sanguins érythrocytaires (2018) (0)
SIDA chez le nourrisson (1984) (0)
Greffe allogénique de moelle pour la thalassémie majeure : l'expérience française (1990) (0)
État de l’art : nouveaux anticoagulants et transfusion (2017) (0)
53es Journées de biologie clinique (2011) (0)
Les marqueurs biologiques de la thrombose (1995) (0)
[How to organize medical research?]. (2010) (0)
Autoimmune Lymphoproliferative Syndromes (ALPS) (2004) (0)
Dilatation des bronches associée aux déficits immunitaires primitifs (2019) (0)
Griscelli Syndrome Author : Doctor (2004) (0)
Exploration des facteurs de risque biologiques de maladie thromboembolique (2018) (0)
O3-8 Étude de la conservation du potentiel lymphoïde après transfert de gène dans les cellules hématopotétiques humaines CD34+ (1998) (0)
Examens complémentaires pour l’exploration d’une consommation de facteurs de la coagulation (2018) (0)
A monocyte/dendritic cell molecular signature of SARS-CoV-2 related multisystem inflammatory syndrome in children (MIS-C) with severe myocarditis. de Cevins et al. (2021) (0)
Manifestations pulmonaires chez les patients adultes avec syndrome hyper IgE STAT3 muté : résultats de la cohorte française (2018) (0)
La cytokine fibrogénique TGF-β1 augmente les propriétés angiogéniques des progéniteurs endothéliaux circulants (2015) (0)
Anti-B-cell MAb therapy of transplant-related lymphoproliferative diseases (1996) (0)
Efficacité de la Thalidomide dans les manifestations inflammatoires de la granulomatose septique chronique (2011) (0)
Prévalence du facteur V Leiden et de la mutation 20210A du facteur II dans une large cohorte de patients non sélectionnés avec thrombose veineuse profonde ou embolie pulmonaire (1999) (0)
Autres contextes clinico-biologiques (2018) (0)
Les déficits immunitaires héréditaires : du gène au traitement (1991) (0)
Vaccination of children. (2019) (0)
Exploration des anomalies de l’hémoglobine (2018) (0)
Reply to ‘Comment on: Evidence of innate lymphoid cell redundancy in humans’ (2018) (0)
Accessory spleen: Differential diagnosis for lymphoma in autoimmune lymphoproliferative syndrome (2010) (0)
Mutations haplo-insuffisantes du gène SOCS1 : une nouvelle cause d’auto-immunité à début précoce traitée par une thérapie ciblée (2020) (0)
Albinisme partiel et déficit immunitaire: caractérisation génique des syndromes de Chédiak-Higashi et de Griscelli (1998) (0)
mTOR inhibition counterbalances the inflammatory status of immune cells in Chronic Granulomatous Disease. (2016) (0)
Greffe de moelle osseuse: réaction du greffon contre l'hôte et rejet. (1986) (0)
Nocardiose et déficit immunitaire primitif (2018) (0)
Reproductive toxicology. Ethylene glycol monomethyl ether: litter two. (1997) (0)
Le syndrome de Wiskott-Aldrich. Une maladie à présentation variable : du diagnostic aux traitements (2015) (0)
Diagnostic d’exclusion de maladie thromboembolique veineuse (2018) (0)
Prevalence of Diagnosed Primary Immunodeficiencies Diseases in France: Results From the French National Registry and the CEREDIH Network. (2009) (0)
Granulomatose septique chronique : ce que nous savons et ce que nous ne savons pas encore (2011) (0)
therapy trial differentiation potential and self-renewal capacity in the SCID-X1 gene Clonal evidence for the transduction of CD34+ cells with lymphomyeloid (2013) (0)
Déficits immunitaires et lymphomes (1988) (0)
A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside (2013) (0)
Évaluation in vitro de la neutralisation de l’apixaban par des agents hémostatiques non spécifiques (2013) (0)
Exploration des proliférations lymphoïdes (2018) (0)
Tests globaux et facteurs de coagulation (2018) (0)
Croissance apres greffe de moelle (1996) (0)
Transplantation médullaire HLA haplo-identique de patients atteints de déficit immunitaire mixte et grave (1985) (0)
Somatic genetic rescue in Mendelian haematopoietic diseases (2019) (0)
Restoration of B Cell Development after Lentiviral Transduction of CD34+ Hematopoietic Cells from RAG-1 Deficient Patient. (2004) (0)
Enhanced inflammatory signaling driven by metabolic switch in Aicardi-Goutières syndrome (2023) (0)
Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome (2018) (0)
Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome (2018) (0)
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency. (2023) (0)
[Genetic anomalies of the human immune system]. (1997) (0)
Selective IgG subclass deficiency in children with recurrent infections : clinical, biological and therapeutic relevance (2008) (0)
[Modifying therapeutic in immune response]. (1992) (0)
Deregulated TCRαβ T-cell population provokes extramedullary hematopoiesis in common cytokine receptor γ chain deficient mice (1997) (0)
Occurence of Malignancies in Patients with Primary Immunodeficiencies: An Analysis of the French Primary Immunodeficency Registry (2012) (0)
Germline TIM-3 Mutations Characterize Sub-Cutaneous Panniculitis T-Cell Lymphomas with Hemophagocytic Lymphohistiocytic Syndrome (2018) (0)
Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure (2018) (0)
The C-Terminal Domain of Cernunnos/XLF Is Dispensable for DNA Repair In Vivo (cid:1) † (2009) (0)
[Two years after, activation-induced cytidine deaminase has not revealed all of its secrets]. (2003) (0)
The Inborn Errors Working Party study of long-term outcomes of haematopoietic stem cell transplantation in patients with severe combined immunodeficiencies (2016) (0)
Haematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Results from an EBMT/ESID Inborn Error Working Party Study (2014) (0)
CTP Synthase 1 Is a Novel Therapeutic Target in Lymphoma (2023) (0)
Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells (2020) (0)
Loss of p19Arf in a Rag1 (cid:1) / (cid:1) B-cell precursor population initiates acute B-lymphoblastic leukemia (2011) (0)
Haematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT Inborn Errors Working Party (IEWP) study (2015) (0)
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity. (2023) (0)
Differential roles of CTP synthetases CTPS1 and CTPS2 in cell proliferation (2023) (0)
Brief report Inﬂammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease (2010) (0)
A Variant Form of Chronic Granulomatous Disease Caused by A Mutation in the Exon 9 of CYBB Gene Revealed by A Burkholderia Cepacia Invasive Infection. (2009) (0)
527 Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor (cid:2) 1 Deﬁciency: Medical and Immunological (2003) (0)
Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients. (2023) (0)
class II deficiency: a single-center study of 19 patients Bone marrow transplantation in major histocompatibility complex (2010) (0)
Wiskott-Aldrich syndrome (2005) (0)
295 Pulmonary arterial hypertension after bone marrow transplantation in children (2011) (0)
Post-transplant lymphoproliferative disorder with central nervous system involvement post-cord blood transplantation for X-linked adrenoleukodystrophy (2008) (0)
Syndromes d’activation lymphohistiocytaire constitutionnels (2013) (0)
Hyper-IgM syndrome. (1994) (0)
Multicentric survey on outcome of transplantation of hematopoetic cells in severely immunodeficient patients with complete form of DiGeorge syndrome (2008) (0)
[Neutropenias in children]. (1989) (0)
A highly polymorphic haplotype encompassing the human mycobacterial susceptibility IFNγR1 gene (1997) (0)
[Treatment of the Wiskott-Aldrich syndrome by a graft of allogeneic bone marrow]. (1984) (0)
Hematopoietic stem cell transplantation between 1968 and 2013 for Severe Combined Immune Deficiency (SCID) below age two : an update by the European Registry (SCETIDE) (2015) (0)
antithymocyte globulins, steroids, and cyclosporin A Treatment of familial hemophagocytic lymphohistiocytosis with (2011) (0)
Influence of Leukotrienes A4 and B4 on the Immunoglobulin Isotype Selection of Normal and Glucocorticoid-Treated Peripheral Blood Mononuclear Cells. (1992) (0)
Bone marrow transplantation for phagocytic cell diseases (1988) (0)
Inflammation and inflammatory bowel disease-Blockade of the integrin aLb2 but not of integrins a4 an (2000) (0)
O IX.3 Human SCIDs with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements define new genes involved in DNA recombination/repair (1997) (0)
UvA-DARE ( Digital Academic Repository ) Chronic granulomatous disease : the European experience (2009) (0)
Familial Hemophagocytic Lymphohistiocytosis : occurence of Central Nervous System manifestations and their prevention by Bone Marrow Transplantation 102 (1996) (0)
Generation of Monoclonal Human Antigen-specific T Cell Helper Factors (1983) (0)
[Allogeneic bone marrow graft in children]. (1986) (0)
[Children in isolators. Allogeneic bone marrow transplantation. Indications]. (1996) (0)
Correction to: A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency (2020) (0)
Novel mutations in CRAC channel protein Orai1 cause immunodeficiency associated with non-immunological disease (89.23) (2007) (0)
Human Adenylate Kinase 2 Deficiency Inhibits Hematopoietic Cell Differentiation towards Neutrophil and T Lymphoid Lineages. (2009) (0)
Human TCR α/ß CD4CD8 double-negative T cells in patients with autoimmune lymphoproliferative syndrome (ALPS) express restricted Vß TCR diversity and are clonally related to CD8+ T cells [Running title: Repertoire Diversity and CD8 origin of DN T cells in ALPS] (2008) (0)
Topoisomerase 2 b mutation impairs early B cell development (2020) (0)
Primary T Cell Immunodeficiencies and Autoimmunity (2011) (0)
Primary Immunodeficiency Diseases - ReadingSample (2016) (0)

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