Capucine Picard

Q: What Schools Are Affiliated With Capucine Picard

Capucine Picard is affiliated with the following schools: Université Paris Cité, Rockefeller University, Shanghai Jiao Tong University, Baylor University, Paris Diderot University

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Capucine Picard

Computer Science

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Machine Learning

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#2870

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Artificial Intelligence

#3128

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#3174

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#4624

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#4803

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Computer Science

Capucine Picard's Degrees

PhD Computer Science Université Paris Cité
Masters Computer Science Université Paris Cité
Bachelors Computer Science Université Paris Cité

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Capucine Picard'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

Human CD14dim Monocytes Patrol and Sense Nucleic Acids and Viruses via TLR7 and TLR8 Receptors (2010) (1159)
Pyogenic Bacterial Infections in Humans with MyD88 Deficiency (2003) (1100)
TLR3 Deficiency in Patients with Herpes Simplex Encephalitis (2007) (1023)
Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency (2014) (906)
Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity (2011) (822)
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee (2020) (743)
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis (2011) (711)
Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency (2006) (700)
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 (2009) (684)
Pyogenic Bacterial Infections in Humans with IRAK-4 Deficiency (2003) (679)
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I (2010) (648)
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity (2017) (635)
Efficacy of gene therapy for X-linked severe combined immunodeficiency. (2010) (581)
Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage (2013) (503)
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. (2009) (468)
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies (2017) (455)
Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells (2008) (445)
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification (2020) (435)
Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity (2007) (396)
Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features (2006) (395)
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. (2016) (394)
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. (2014) (373)
Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency (2010) (372)
Immunodeficiency, auto-inflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency (2012) (372)
Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency (2015) (347)
Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations (2015) (343)
Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries (2010) (339)
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. (2009) (334)
Clinical features of dominant and recessive interferon γ receptor 1 deficiencies (2004) (334)
Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency (2011) (327)
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. (2015) (326)
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)
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. (2010) (303)
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88 (2010) (297)
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. (2009) (291)
Deep dermatophytosis and inherited CARD9 deficiency. (2013) (288)
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. (2002) (284)
Human TLR-7-, -8-, and -9-Mediated Induction of IFN-α/β and -λ Is IRAK-4 Dependent and Redundant for Protective Immunity to Viruses (2005) (282)
Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome: Molecular, Cellular, and Clinical Features From a French National Survey (2012) (274)
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. (2011) (270)
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis (2012) (268)
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma (2010) (267)
Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity (2011) (264)
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production (2006) (263)
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)
Evidence of innate lymphoid cell redundancy in humans (2016) (252)
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. (2006) (250)
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome (2015) (250)
MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. (2012) (250)
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. (2012) (249)
Hematopoietic Stem Cell Transplantation in Hemophagocytic Lymphohistiocytosis: A Single-Center Report of 48 Patients (2006) (239)
DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients (2015) (238)
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease (2011) (236)
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. (2013) (235)
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies (2015) (229)
IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans. (2008) (219)
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. (2009) (219)
Inborn errors of interferon (IFN)‐mediated immunity in humans: insights into the respective roles of IFN‐α/β, IFN‐γ, and IFN‐λ in host defense (2008) (219)
Immunotherapy of Familial Hemophagocytic Lymphohistiocytosis With Antithymocyte Globulins: A Single-Center Retrospective Report of 38 Patients (2007) (216)
Tartrate resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature (2010) (212)
Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. (2004) (205)
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. (2004) (197)
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia (2015) (197)
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness (2009) (196)
Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies (2017) (187)
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis (2007) (187)
Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease (2006) (183)
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice (2011) (178)
Primary immunodeficiencies underlying fungal infections (2013) (178)
Human interferon‐g‐mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion (2000) (174)
Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes (2017) (173)
Inherited disorders of NF-κB-mediated immunity in man (2004) (172)
Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both. (2015) (171)
Immunity to infection in IL‐17‐deficient mice and humans (2012) (166)
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. (2016) (166)
Experimental and natural infections in MyD88‐ and IRAK‐4‐deficient mice and humans (2012) (165)
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation (2014) (163)
Somatic diversification in the absence of antigen-driven responses is the hallmark of the IgM+IgD+CD27+ B cell repertoire in infants (2008) (162)
Immunodeficiency due to mutations in ORAI1 and STIM1. (2010) (161)
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies. (2015) (160)
Primary immunodeficiencies associated with pneumococcal disease (2003) (159)
Human CD 14 dim Monocytes Patrol and Sense Nucleic Acids and Viruses via TLR 7 and TLR 8 Receptors (2010) (157)
Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells (2013) (156)
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. (2013) (154)
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis (2015) (149)
Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. (2008) (148)
Exome and genome sequencing for inborn errors of immunity. (2016) (147)
Recurrent Staphylococcal Cellulitis and Subcutaneous Abscesses in a Child with Autoantibodies against IL-61 (2008) (146)
Type I interferon-mediated autoinflammation due to DNase II deficiency (2017) (144)
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. (2011) (144)
Human Toll‐like receptor‐dependent induction of interferons in protective immunity to viruses (2007) (142)
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease (2006) (141)
Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network (2015) (140)
Inherited disorders of human Toll‐like receptor signaling: immunological implications (2005) (139)
A human immunodeficiency caused by mutations in the PIK3R1 gene. (2014) (136)
Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? (2010) (135)
Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome (2009) (135)
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. (2013) (134)
Bacillus Calmette Guérin triggers the IL‐12/IFN‐γ axis by an IRAK‐4‐ and NEMO‐dependent, non‐cognate interaction between monocytes, NK, and T lymphocytes (2004) (134)
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)
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee (2020) (131)
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee (2021) (126)
Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome (2015) (125)
Inherited IL-12p40 Deficiency (2013) (124)
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. (2014) (124)
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. (2012) (123)
Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections (2012) (121)
Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection. (2014) (121)
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)
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. (2011) (116)
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. (2012) (116)
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity (2018) (116)
A human immunodeficiency caused by mutations in the PIK3R1 gene. (2015) (115)
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood (2013) (112)
Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection (2017) (111)
Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update. (2002) (107)
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts. (2013) (106)
Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency (2014) (106)
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. (2011) (105)
Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP. (2013) (102)
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections. (2017) (102)
Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia (2013) (100)
Impaired Interferon Gamma-Mediated Immunity and Susceptibility to Mycobacterial Infection in Childhood (2001) (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)
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. (2014) (99)
Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency. (2014) (96)
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. (2012) (96)
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases. (2016) (95)
Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. (2004) (94)
Occurrence of B-cell lymphomas in patients with Activated Phosphoinositide 3-Kinase δ syndrome (2014) (94)
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity (2009) (93)
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. (2010) (92)
IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients. (2012) (91)
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. (2011) (91)
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome (2016) (90)
Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey. (2004) (89)
HHV-8–associated Kaposi sarcoma in a child with IFNγR1 deficiency (2004) (88)
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. (2011) (87)
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency (2017) (87)
Inherited disorders of NF-kappaB-mediated immunity in man. (2004) (86)
Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations (2016) (85)
High Levels of Interferon Gamma in the Plasma of Children With Complete Interferon Gamma Receptor Deficiency (2001) (83)
Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. (2013) (79)
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity. (2015) (79)
SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4 (2021) (78)
STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function (2015) (77)
Genetic lessons learned from X‐linked Mendelian susceptibility to mycobacterial diseases (2011) (77)
Primary immunodeficiencies of protective immunity to primary infections. (2010) (76)
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. (2019) (76)
NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth (2005) (75)
Macrophages induce differentiation of plasma cells through CXCL10/IP-10 (2012) (75)
TLR-Mediated Inflammatory Responses to Streptococcus pneumoniae Are Highly Dependent on Surface Expression of Bacterial Lipoproteins (2014) (74)
Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency (2017) (73)
Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency. (2005) (73)
Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency. (2011) (72)
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets (2016) (72)
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. (2017) (71)
Prevention of infections during primary immunodeficiency. (2014) (71)
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) (2012) (70)
A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4 (2014) (70)
Human primary immunodeficiencies of type I interferons. (2007) (70)
Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency (2018) (69)
A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling (2006) (69)
Invasive pneumococcal disease in children can reveal a primary immunodeficiency. (2014) (67)
ZAP70: a master regulator of adaptive immunity (2010) (67)
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)
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity (2017) (64)
Mendelian traits that confer predisposition or resistance to specific infections in humans. (2006) (64)
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. (2011) (64)
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function. (2013) (64)
A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy (2013) (64)
Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection (2014) (63)
Trends of Pneumococcal Meningitis in Children After Introduction of the 13-Valent Pneumococcal Conjugate Vaccine in France (2014) (63)
Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay. (2010) (63)
ORAI1 mutations abolishing store‐operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency (2017) (62)
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease (2006) (62)
Recurrent Mycobacterium avium Osteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation (2001) (62)
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. (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)
From idiopathic infectious diseases to novel primary immunodeficiencies. (2005) (61)
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)
A Polysaccharide Virulence Factor of a Human Fungal Pathogen Induces Neutrophil Apoptosis via NK Cells (2014) (59)
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. (2013) (58)
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome) (2008) (58)
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation (2008) (58)
HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency. (2004) (57)
CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study. (2015) (56)
Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency (2006) (55)
Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives. (2006) (54)
Loss of RASGRP1 in humans impairs T‐cell expansion leading to Epstein‐Barr virus susceptibility (2018) (53)
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study (2018) (53)
Self-reactive VH4-34–expressing IgG B cells recognize commensal bacteria (2017) (53)
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. (2016) (53)
Rituximab therapy for childhood Evans syndrome (2007) (52)
B-cell subpopulations in children: National reference values (2014) (51)
Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency. (2019) (51)
IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens. (2014) (51)
Functional and structural insight into properdin control of complement alternative pathway amplification (2017) (51)
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis (2017) (51)
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency (2017) (50)
Human TRAF 3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis (2010) (49)
Contribution of high‐throughput DNA sequencing to the study of primary immunodeficiencies (2014) (48)
Early-onset autoimmunity associated with SOCS1 haploinsufficiency (2020) (48)
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. (2018) (46)
IRAK-4 Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells1 (2006) (46)
Erysipèle : données épidémiologiques cliniques et thérapeutiques : (111 observations) (1991) (45)
Interleukin 1/Toll-like Receptor-induced Autophosphorylation Activates Interleukin 1 Receptor-associated Kinase 4 and Controls Cytokine Induction in a Cell Type-specific Manner (2014) (45)
Clinical and immunologic phenotype associated with activated ă phosphoinositide 3-kinase delta syndrome 2: A cohort study (2016) (44)
Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells (2019) (44)
Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome (2006) (44)
Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation. (2005) (44)
Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia. (2012) (44)
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. (2013) (43)
Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients. (2014) (42)
A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency. (2015) (42)
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts (2017) (42)
Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes. (2007) (41)
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry (2014) (41)
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency (2018) (41)
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)
Inherited human IRAK-4 deficiency: an update (2007) (39)
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients (2013) (39)
Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. (2011) (38)
Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state (2018) (38)
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome (2017) (38)
Heritable defects of the human TLR signalling pathways (2005) (37)
Classic Kaposi Sarcoma in 3 Unrelated Turkish Children Born to Consanguineous Kindreds (2010) (36)
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity (2022) (35)
Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee (2020) (35)
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey (2016) (35)
Characteristics of HIV-infected children recently diagnosed in Paris, France (2006) (34)
Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. (2019) (33)
Frequent and widespread vascular abnormalities in human STAT3 deficiency (2011) (32)
ICON: The Early Diagnosis of Congenital Immunodeficiencies (2014) (32)
Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children (2005) (32)
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency (2002) (31)
EVER2 Deficiency is Associated with Mild T-cell Abnormalities (2012) (31)
PROMIDIS&agr;: A T‐cell receptor &agr; signature associated with immunodeficiencies caused by V(D)J recombination defects (2019) (31)
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons (2018) (30)
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling. (2015) (29)
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome. (2016) (29)
Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies (2017) (29)
Human plasma cells express granzyme B (2014) (28)
Inherited disorders of cytokines (2004) (28)
Loss of ARHGEF1 causes a human primary antibody deficiency (2019) (28)
Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency. (2009) (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)
Multicentric Castleman Disease in an HHV8-Infected Child Born to Consanguineous Parents With Systematic Review (2012) (27)
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs. (2011) (26)
Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency. (2013) (26)
Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1) (2017) (26)
Severe cutaneous bacillus Calmette–Guérin infection in immunocompromised children: the relevance of skin biopsy (2013) (26)
Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease (2017) (26)
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients. (2019) (26)
Clinical Disease Caused by Klebsiella in 2 Unrelated Patients With Interleukin 12 Receptor β1 Deficiency (2010) (25)
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity (2017) (25)
The Transcription Factor RFX Protects MHC Class II Genes against Epigenetic Silencing by DNA Methylation1 (2009) (25)
Pneumococcal Meningitis Vaccine Breakthroughs and Failures After Routine 7-Valent and 13-Valent Pneumococcal Conjugate Vaccination in Children in France (2015) (24)
Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome (2011) (24)
DOCK8 Drives Src-Dependent NK Cell Effector Function (2017) (23)
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology (2014) (23)
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies (2019) (23)
Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses (2020) (22)
Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency. (2010) (22)
Inherited IL-17 RC deficiency in patients with chronic mucocutaneous candidiasis (2015) (22)
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults (2013) (22)
Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transplantation. (2016) (22)
Next generation phenotyping using narrative reports in a rare disease clinical data warehouse (2018) (22)
Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis (2007) (21)
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation (2019) (21)
Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency. (2019) (21)
Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency. (2019) (20)
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature (2017) (20)
Immunodeficiency due tomutations in ORAI 1 and STIM 1 (2010) (19)
Méningites à pneumocoque de l'enfant en France : 832 cas de 2001 à 2007 (2008) (19)
Diffuse large B‐cell non‐Hodgkin's lymphoma in a patient with autoimmune lymphoproliferative syndrome (2001) (19)
TACI triggers immunoglobulin class switching by activating B cells through the adaptor protein MyD88 (2010) (19)
Burkholderia pseudomallei infection in chronic granulomatous disease (2006) (19)
Mechanisms of genotype‐phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (2017) (19)
Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection (2020) (19)
Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies (2018) (19)
Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene. (2016) (19)
Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds (vol 92, pg 109, 2013) (2013) (18)
Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation. (2020) (18)
DIAGNOSIS AND MANAGEMENT OF INHERITABLE DISORDERS OF INTERFERON-γ-MEDIATED IMMUNITY (2000) (18)
Addressing diagnostic challenges in primary immunodeficiencies: Laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses (2014) (18)
Massive expansion of maternal T cells in response to EBV infection in a patient with SCID-Xl. (2012) (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)
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma and autoimmunity. (2020) (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)
Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis. (2011) (15)
Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry. (2019) (15)
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance (2021) (15)
Imported African histoplasmosis in an immunocompetent patient 40 years after staying in a disease-endemic area. (2014) (14)
Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up. (2008) (14)
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency. (2020) (14)
DOCK 8 deficiency impairs CD 8 T cell survival and function in humans and mice (2011) (14)
[How to diagnose a hereditary immunodeficiency?]. (2007) (13)
Recurrent Respiratory Infections Revealing CD8α Deficiency (2015) (13)
Hodgkin lymphoma in 2 children with chronic granulomatous disease. (2011) (13)
INHERITED DISORDERS OF THE INTERLEUKIN-12-LNTERFERON GAMMA AXIS: MENDELIAN PREDISPOSITION TO MYCOBACTERIAL DISEASE IN MAN (2002) (13)
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance (2019) (13)
Infection multifocale à Mycobacterium intracellulare : premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français (2007) (13)
Cellular and humoral aberrations in a kindred with IL-1 receptor-associated kinase 4 deficiency. (2007) (13)
Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF‐&kgr;B activation and leads to incontinentia pigmenti (2017) (13)
Alemtuzumab as First Line Treatment in Children with Familial Lymphohistiocytosis (2019) (12)
BCG Moreau Vaccine Safety Profile and NK Cells—Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency (2019) (12)
SARS-CoV-2 induces human plasmacytoid pre-dendritic cell diversification via UNC93B and IRAK4 (2020) (12)
CD21 deficiency in 2 siblings with recurrent respiratory infections and hypogammaglobulinemia. (2017) (12)
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing. (2020) (12)
An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma (2010) (11)
OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH (2016) (11)
Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome (2018) (11)
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA (2015) (11)
Successful Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide in a Severe Combined Immune Deficiency Patient: a First Report (2016) (11)
A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency (2020) (11)
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification (2020) (11)
Value of allohaemagglutinins in the diagnosis of a polysaccharide antibody deficiency (2015) (11)
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis (2017) (10)
Deficiency of interleukin-1 receptor-associated kinase 4 presenting as fatal Pseudomonas aeruginosa bacteremia in two siblings. (2015) (10)
Molecular Basis of Major Histocompatibility Complex Class II Deficiency (2013) (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)
Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency (2017) (9)
Risk Factors in Children Older than 5 Years with Pneumococcal Meningitis: Data from a National Network. (2016) (9)
Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency. (2019) (9)
Topoisomerase 2β mutation impairs early B cell development. (2020) (9)
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds (2018) (9)
CorrigendumCorrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361] (2007) (9)
Coexistence de lignées HK et MK dans les pyroclastites associées à la caldera d'Ambrym (Vanuatu - Arc des Nouvelles-Hébrides) (1991) (8)
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency (2018) (8)
Prédisposition génétique et infections de l'enfant (2006) (8)
Temporal interferon-gamma release response to Mycobacterium kansasii infection in an anorexia nervosa patient. (2012) (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)
Découverte d'un large anneau de tufs basaltiques associé à la formation de la caldera d'Ambrym (Vanuatu, SW Pacifique) (1991) (8)
[Pneumonia due to adenovirus type 7: a case report in a healthy infant]. (2011) (8)
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. (2007) (8)
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation (2022) (8)
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation (2020) (8)
Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease. (2016) (8)
Successful pediatric ECMO in a rare case of septic shock due to a community-acquired Legionella infection. (2017) (7)
Alternative pathways for the development of lymphoid structures in humans (2021) (7)
DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients (2015) (7)
Histiocytose langerhansienne et leucémie de la lignée myélomonocytaire : une association non fortuite (1999) (7)
[Multifocal infection due to Mycobacterium intracellulare: first case of interferon gamma receptor partial dominant deficiency in tropical French territory]. (2007) (7)
Pneumopathie hypoxémiante à adénovirus de type 7 chez un nourrisson sans déficit immunitaire. (2011) (7)
Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy. (2014) (7)
Comprehensive molecular diagnosis of Epstein–Barr virus-associated lymphoproliferative diseases using next-generation sequencing (2018) (6)
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)
Analyse des signes cliniques des malades atteints de pemphigoïde en fonction des antigènes reconnus par leur sérum en immunotransfert (2004) (6)
Risk Factors in Children Older Than 5 Years With Pneumococcal Meningitis: Data From a National Network. (2017) (6)
Lymphohistiocytosis: A Single-Center Report of 48 Patients Hematopoietic Stem Cell Transplantation in Hemophagocytic (2010) (5)
Long term follow-up of pediatric-onset Evans syndrome: broad immunopathological manifestations and high treatment burden (2021) (5)
Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome (2021) (5)
Abatacept is useful in auto-immune cytopenia with immunopathologic manifestations caused by CTLA-4 defects. (2021) (5)
HUMAN INVASIVE DERMATOPHYTIC DISEASE IS CAUSED BY INBORN ERRORS OF CARD9 (2012) (5)
The Genetic and Molecular Basis of Severe Combined Immunodeficiency (2015) (5)
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (2008) (5)
Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. (2022) (5)
Acute microbiologically negative hypoxic interstitial pneumonia on HAART: Immune Reconstitution Inflammatory Syndrome unmasking Pneumocystis Jiroveci infection with an atypical presentation (2012) (5)
Syndrome de susceptibilité mendélienne aux infections mycobactériennes : à propos d’un cas d’infection disséminée à Mycobacterium avium (2013) (5)
A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma. (2018) (5)
Quand rechercher un déficit immunitaire héréditaire chez l’enfant ? (2013) (4)
Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia (2021) (4)
Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report (2019) (4)
Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations. (2019) (4)
Transient familial haemophagocytic lymphohistiocytosis reactivation post‐CD34 haematopoietic stem cell transplantation (2005) (4)
[Mendelian susceptibility to mycobacterial disease: a case report of disseminated infection due to Mycobacterium avium]. (2013) (4)
A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3-deficient patient. (2015) (4)
[Pneumococcal meningitis in children in France: 832 cases from 2001 to 2007]. (2008) (4)
Heterozygous RELA mutations cause early-onset systemic lupus erythematosus by hijacking the NF-κB pathway towards transcriptional activation of type-I Interferon genes (2020) (4)
DOCK 8 de ! ciency impairs CD 8 T cell survival and function in humans and mice (2011) (4)
Human Interleukin-12—Interferon-γ Axis in Protective Immunity to Mycobacteria (2003) (4)
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood (2021) (4)
Type І Hyper IgM Syndrome with Novel Mutation from India (2014) (4)
Early-onset hypogammaglobulinemia: A survey of 44 patients. (2015) (4)
Evolution of the Definition of Primary Immunodeficiencies (2014) (3)
Novel primary immunodeficiencies. (2005) (3)
Prédisposition génétique aux maladies infectieuses chez l’homme☆ (2013) (3)
Sarcoïdose cutanée floride. Difficultés thérapeutiques. (1989) (3)
Life-Threatening Pneumopathy and U urealyticum in a STAT3-Deficient Hyper-IgE Syndrome Patient (2017) (3)
Asplénie: quels sont les risques après une splénectomie ? Quelle prophylaxie anti-infectieuse proposer ? (2009) (3)
CLINICAL FEATURES OF CANDIDIASIS IN PATIENTS WITH INTERLEUKIN-12 RECEPTOR B1 DEFICIENCY (2012) (3)
Susceptibilité génétique et infection chez l’enfant (2009) (3)
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency (2018) (3)
Adoptive Immunotherapy with Donor Allodepleted T Cells. (2005) (3)
[Purulent pericarditis and colonic infiltrating to Salmonella enteritidis complicated by acute intussusception in a case of IL-12Rβ1 deficiency]. (2014) (3)
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations (2021) (3)
[Follow-up with the assistance of TB-info software of 208 tuberculosis patients who were treated in 2004]. (2009) (3)
Long-Term Follow-up Study after Lentiviral Hematopoietic Stem/Progenitor Cell Gene Therapy for Wiskott - Aldrich Syndrome (2021) (3)
Different Immunological Pathways Underlie the Immune Response to Pneumococcal Polysaccharides (2017) (2)
[Churg-Strauss syndrome relapse when antileucotriene in taggered]. (2005) (2)
Pachymeningitis after meningococcal infection (2013) (2)
Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant (2013) (2)
Syndrome du glucagonome (1988) (2)
Déficits immunitaires héréditaires de l’immunité innée et infections (2016) (2)
Follow-up of 208 tuberculosis patients treated in 2004 with the assistance of TB-info® software. (2009) (2)
Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies (2016) (2)
15th Biennial Meeting of the European Society for Immunodeficiency (2012) (2)
Human Adenylate Kinase 2 Deficiency Causes a Profound Haematopoietic Defect Associated with Sensorineural Deafness (2008) (2)
Nouveaux déficits immunitaires héréditaires et prédisposition génétique aux maladies infectieuses de 1' enfant (2003) (2)
Immune Reconstitution and Preliminary Safety Analysis Of 9 Patients Treated With Somatic Gene Therapy For X-Linked Severe Combined Immunodeficiency (SCID-X1) With a Self-Inactivating Gammaretroviral Vector (2013) (2)
Onset of Autoimmunity In ALPS as a Consequence of Genetic Defects Accumulation (2010) (2)
Antibioprophylaxie chez les enfants immunodéprimés (2013) (2)
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency (2021) (2)
HSCT for DOCK8 Deficiency - an International Study on 74 Patients (2016) (2)
Long-term consequences of Hodgkin lymphoma therapy on T-cell lymphopoiesis. (2015) (2)
Complementation of a pathogenic IFNGR 2 misfolding mutation with modifi ers of N-glycosylation (2008) (2)
Péricardite purulente et infiltration colique à Salmonella enteritidis compliquée d’invagination intestinale aiguë dans un cas de déficit en IL-12Rβ1☆ (2014) (2)
A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency (2019) (2)
Immunodeficiencies at the Interface of Innate and Adaptive Immunity (2019) (2)
Inherited TNFSF9 deficiency causes broad Epstein–Barr virus infection with EBV+ smooth muscle tumors (2022) (1)
SFP-P177 – Pathologie infectieuse – A propos d’une observation de rubéole congénitale : évolution clinique et immuno-virologique sur 3 ans (2008) (1)
[Genetic susceptibility and infection in children]. (2009) (1)
[New hereditary immunodeficiencies and genetic predisposition to infective diseases in children]. (2003) (1)
Correction: Self-reactive VH4-34–expressing IgG B cells recognize commensal bacteria (2017) (1)
Ulcère de jambe révélant un lupus systémique avec anticoagulant circulant (1990) (1)
Combined immune deficiencies (CIDs) (2020) (1)
[Innate immunity primary immunodeficiencies and infections]. (2016) (1)
Une pemphigoïde bulleuse chez un nourisson révélatrice d’un IPEX syndrome (2014) (1)
Break down the barriers of auto‐inflammation: How to deal with a monogenic auto‐inflammatory disease and immuno‐haematological features in 2022? (2022) (1)
Le déficit en DOCK8 (dedicator of cytokinesis 8 gene) : à propos d’un nouveau cas (2014) (1)
Human kidney-derived hematopoietic stem cells can support long-term multilineage hematopoiesis. (2022) (1)
Clinical Presentation and Long-Term Outcome of Dock8 Deficiency - A Survey of 134 Patients (2012) (1)
MOLD infections in STAT 3 DEFICIENT patients: A NATIONWIDE STUDY IN FRANCE (2016) (1)
Le contrôle génétique des maladies infectieuses : des lois de Mendel au séquençage de l’exome (2013) (1)
BCG Moreau Polish Substrain Infections in Patients With Inborn Errors of Immunity: 40 Years of Experience in the Department of Immunology, Children's Memorial Health Institute, Warsaw (2022) (1)
Mastocytose systémique avec atteinte digestive. (1991) (1)
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling (2021) (1)
PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity (2014) (1)
Late-Onset Progressive Multifocal Leukoencephalopathy (PML) and Lymphoma in a 65-Year-Old Patient with XIAP Deficiency (2021) (1)
Human monogenic disorders that confer predisposition to specific infections. (2007) (1)
Syndrome lymphoprolifératif auto-immun chez l’adulte : une cause rare mais sous-diagnostiquée de cytopénies auto-immunes (2010) (1)
A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings (2021) (1)
Management of DOCK8 deficiency by haematopoietic stem cell transplantation (2012) (1)
Recurrent Respiratory Infections Revealing CD8α Deficiency (2015) (1)
36 – Inherited disorders of IFN-γ-, IFN-α/β/λ-, and NF-κB-mediated immunity (2013) (1)
An Autosomal Dominant SCID Form Due to a Gain of Function Mutation in the RAC2 Gene (2019) (1)
Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy (2023) (1)
Curative allogeneic hematopoietic stem cell transplantation following reduced toxicity conditioning in adults with primary immunodeficiency (2022) (1)
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study (2020) (1)
Value of allohemagglutinins in the diagnosis of a polysaccharide antibody deficiency 1 Short title : Allohemagglutinins for polysaccharide antibody deficiency diagnosis (2014) (1)
disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (2017) (1)
[When should immunologic explorations be carried out in children with suspicion of primary immunodeficiency?]. (2013) (1)
La Société francophone de recherche en pédiatrie : une société menacée ? (2009) (1)
SFRP-01 – Recherche expérimentale – Défaut héréditaire de CYBB et prédisposition mendélienne aux infections mycobactériennes (2008) (1)
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence (2022) (1)
[Prophylactic antibiotics for immunocompromised children]. (2013) (1)
[Genetic predisposition and children infectious disease]. (2006) (1)
Genome-wide Innate Immune Responsiveness Profiles of Patients with Inborn Errors of Toll-like Receptor Signaling (2010) (0)
T-Cell Depleted Haematopoietic Stem Cells (HSC) Transplantation with Add Back of CD45RA Negative DLI: About 2 Cases (2012) (0)
Caractéristiques cliniques des myosites associées aux anticorps anti-NXP2 chez l’adulte : étude de 6 cas (2020) (0)
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity (114.16) (2011) (0)
Modeling of Immune Reconstitution Post CD34 Selected Stem Cell Transplantation in Pediatric Patients with Severe Combined Immune Deficiency (2019) (0)
Le Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH) (2009) (0)
[Genetic predisposition and susceptibility to mycobacterial infections: the IL-12-IFNgamma axis deficiency]. (2005) (0)
A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy (2013) (0)
[Asplenia: What are the risks after a splenectomy? What anti-infectious prophylactis proposes?]. (2009) (0)
Une éruption cutanée satellite d’une myélodysplasie (2015) (0)
Structural and functional studies of human complement factor P (2017) (0)
P142 Inflammatory bowel diseases associated with primary immunodeficiency: a multicenter study (2022) (0)
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8 2 (2019) (0)
La détection par une PCR multiplex de bactéries responsables de pneumopathies atypiques améliore-t-elle les performances du diagnostic microbiologique des infections du tractus respiratoire ? (2006) (0)
Unsmaking Primary Immune Deficiencies In Early-Onset Evans Syndrome Ă Using Immunophenotyping And Ngs: Towards A Clinical And Genetic Ă Classification (2016) (0)
Kanalopatija CRAC- rijetko, ali klinički prepoznatljivo i lječivo (2012) (0)
Évaluation du timolol maléate en gel dans la cicatrisation des ulcères veineux chroniques : étude randomisée et controlée de phase II (2018) (0)
Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation (2016) (0)
Iconographies supplémentaires de l'article : Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease (2016) (0)
Anti CMV and/or Anti Adenovirus IFN-g-Positive CD4+ CD8+ T Lymphocytes for Treatment of Viral Infections After Allogeneic HSC Transplantation: First Results (2012) (0)
Different Immunological Pathways Underlie the Immune Response to Pneumococcal Polysaccharides (2017) (0)
Defects in Intrinsic and Innate Immunity: Receptors and Signaling Components (2017) (0)
Human Myeloid and Non-Myeloid Cells Post-Transcriptional TLR / IL-1 R Responses and Characterization of Defective Mutation ( Q 293 X ) : Rapid Detection IRAK-4 Speert (2006) (0)
Iconographies supplémentaires de l'article : Signal transducer and activator of transcription 3 ( STAT3 ) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8 + T-cell memory formation and function (2013) (0)
Review for "More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation" (2020) (0)
Une leucoencéphalopathie progressive multifocale révélatrice d’une nouvelle mutation du gène GATA2 (2014) (0)
Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients. (2023) (0)
Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies (2018) (0)
immunodeficiency single-center cohort of 90 patients with severe combined Long-term outcome after hematopoietic stem cell transplantation of a (2013) (0)
Mutations haplo-insuffisantes du gène SOCS1 : une nouvelle cause d’auto-immunité à début précoce traitée par une thérapie ciblée (2020) (0)
Rôle de l’équipe paramédicale dans la réalisation du contrôle ciblé de la température après un arrêt cardiaque récupéré (2010) (0)
[Plasma exchange in polyradiculoneuritis in AIDS]. (1988) (0)
Evidence of innate lymphoid cell redundancy in humans (2016) (0)
Disease Caused by Klebsiella in 2 Unrelated (2010) (0)
reliable markers of ALPS associated with FAS loss of function FAS-L, IL-10, and double-negative CD4-CD8-TCR alpha/beta+ T cells are (2011) (0)
Inborn Errors of NF-kB Immunity (2013) (0)
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency (2023) (0)
BCG Moreau Vaccine Safety Profile and NK Cells—Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency (2019) (0)
WITHDRAWN: Genetic infectious susceptibility and TLR defects in human. (2009) (0)
EVER2 Deficiency is Associated with Mild T-cell Abnormalities (2012) (0)
Utilisation des corticoïdes systémiques dans le traitement de l’érythème polymorphe grave : audit de pratique multicentrique – résultats préliminaires (2017) (0)
Shalini Oberdoerffer Ribonucleoprotein , hnRNPLL Regulation of CD 45 Alternative Splicing by Heterogeneous (2014) (0)
deficiency A Mendelian predisposition to B-cell lymphoma caused by IL-10R (2013) (0)
GENETIC DIAGNOSIS GUIDES TREATMENT OF AUTOIMMUNE ENTEROPATHY. (2022) (0)
A Complex Infectious, Inflammatory, and Autoimmune Phenotype Reveals 22q11.2 Deletion Syndrome in an Adult (2021) (0)
Activation-induced cell-death of human T-lymphocytes Perforin-dependent apoptosis functionally compensates Fas-deficiency in (2013) (0)
Type I interferon-mediated autoinflammation due to DNase II deficiency (2017) (0)
Gale croûteuse acquise en période néonatale (2012) (0)
Silencing by DNA Methylation MHC Class II Genes against Epigenetic The Transcription Factor RFX Protects (2009) (0)
Erratum: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation (2014) (0)
Autoantibodies against IL-6 Subcutaneous Abscesses in a Child with Recurrent Staphylococcal Cellulitis and (2007) (0)
Polyarthrite avec dépôts intra-synoviaux de mucine au cours d'une mucinose cutanée (1997) (0)
ICON: The Early Diagnosis of Congenital Immunodeficiencies (2014) (0)
Survenue d’une prolifération LGL chez une patiente avec un DICV : une mutation gain de fonction de STAT3 en cause (2020) (0)
[Immunity and defenses against infection]. (2007) (0)
Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee (2020) (0)
OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH (2016) (0)
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited (2022) (0)
Rapid and Safe T Cell Immune Reconstitution By T Cell Progenitor Injection Following Haploidentical Transplantation for Severe Combined Immunodeficiency (SCID) (2021) (0)
[Ichtyosiform erythroderma revealing a severe combined immunodeficiency]. (2020) (0)
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey (2016) (0)
Investigation of primary immune deficiency after severe bacterial infection in children: A population-based study in western France. (2021) (0)
Éditorial. Sommaire du tome XVIII, numéro 2, avril 1996 (1996) (0)
Défaut héréditaire de la protéine IRAK-4 chez l'homme (2005) (0)
Gene Therapy of Human Blnk Deficiency in NOD/SCID/Gc Ko Murine Model (2011) (0)
Impaired T-Independent IgM Responses Due To Irak-4-, MyD88 Deficiency Or Splenectomy (2014) (0)
List of Contributors (2019) (0)
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA (2016) (0)
Review for "Known and Potential Molecules Associated with Altered B cell Development Leading to Predominantly Antibody Deficiencies" (2021) (0)
A NOTCH1-Independant Pathway of c-Myc Oncogenesis in TAL1 + Human T-ALL. (2007) (0)
Infections et auto-immunité : une mutation RAG et des lymphocytes perturbés☆ (2016) (0)
Érythrodermie ichtyosiforme révélant un déficit immunitaire combiné sévère (2020) (0)
PS2-010. Human TIRAP deficiency in eight individuals from a large consanguineous family: A cause for predisposition to staphylococcal diseases? (2011) (0)
L’importance du dermatologue dans les manifestations précoces de la polyendocrinopathie auto-immune de type 1 (APECED) (2018) (0)
Dedication (2020) (0)
An Autosomal Dominant Form of Ras-Related C3 Botulinum Toxin Substrate 2 (RAC2) Is Associated with Haematopoiesis Failure (2021) (0)
Clinical Presentation, Long-Term Outcome and Therapeutic Management of DOCK8 Deficiency-an International Survey of 125 Patients (2012) (0)
Manner Controls Cytokine Induction in a Cell 1 Receptor-associated Kinase 4 and Autophosphorylation Activates Interleukin Interleukin 1 / Toll-like Receptor-induced Immunology : (2014) (0)
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies (2015) (0)
Diagnostic à l’âge adulte d’un déficit immunitaire primitif avec candidose récurrente : la mutation « gain de fonction » du gène STAT 1 (2021) (0)
Infections à Streptococcus pneumoniae et à Staphylococcus aureus : quels sont les déficits immunitaires héréditaires à rechercher ? (2008) (0)
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA (2015) (0)
Non-caseating granulomas in cartilage hair hypoplasia: does TNFalpha play a role? (2008) (0)
Reduced Th17 cells in a patient with recurrent staphylococcal disease and neutralizing autoantibodies against IL-6 (47.33) (2009) (0)
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 (2015) (0)
Déficits immunitaires combinés sévères : de la clinique aux explorations immunologique et génétique (2023) (0)
Major Histocompatibility Complex Class II Deficiency (2016) (0)
Primary immunodeficiency (WS-051) Chairpersons: Toshio Miyawaki, Michelle Letarte (2010) (0)
RPSAMUTATIONS IN ISOLATED CONGENITAL ASPLENIA (ICA): A RIBOSOMOPATHY UNVEILED (2017) (0)
STAT3 mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8 + T cell memory formation and function (2013) (0)
[The cost of care related to AIDS at the Henri Mondor Hospital]. (1988) (0)
Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or I (cid:1) B (cid:2) Deﬁciency (2011) (0)
ELISA envoplakine : un nouvel outil pour le diagnostic et le suivi des dermatoses bulleuses autoimmunes (2013) (0)
Long-term follow-up of an activated PI3K-δ syndrome 2 in patient presenting with an agammaglobulinemia phenotype. (2018) (0)
Prise en charge thérapeutique des granulomes cutanés chez 11 enfants suivis pour déficit immunitaire primitif (2012) (0)
Évaluation de la douleur chez les patients hospitalisés pour une pemphigoïde bulleuse (2011) (0)
Classic Kaposi ’ s sarcoma in three unrelated Turkish children born to consanguineous kindreds (2010) (0)
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency (2017) (0)
Génotypes emm et facteurs de virulence du SGA dans les infections invasives et non invasives chez l’enfant : Étude prospective multicentrique (2019) (0)
Mendelian Susceptibility to Infections with Viruses, Mycobacteria, Bacteria, and Candida (2016) (0)
Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation (2016) (0)
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation (2020) (0)
Auto-anticorps anti-interféron gamma : une cause rare d’infections mycobactériennes récidivantes (2013) (0)
Human adenoviral (HAdV) chronic arthritis expands the infectious spectrum of primary agammaglobulinemia (2022) (0)
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) (0)
Vilasack Thammavongsa Promote Immune Cell Death Degrades Neutrophil Extracellular Traps to Staphylococcus aureus (2013) (0)
Syndromes d’activation lymphohistiocytaire constitutionnels (2013) (0)
Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature (2018) (0)
Myeloid and Non-Myeloid Cells TLR/IL-1R Responses in Human Defective Post-Transcriptional Detection and Characterization of (2009) (0)
B-16 - Déficit en CARD9 chez des patients atteints d’infections invasives à Candida albicans et Exophiala dermatitidis (2013) (0)
Syndrome d'Iso Kikuchi: onychodystrophie congénitale des index ou syndrome COIF (2018) (0)
IgM recognition of glycan antigens is impaired by IRAK-4/MyD88 deficiency (P3077) (2013) (0)
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA (2016) (0)
Comment les proches vivent-ils les soins en oncologie ? Une étude qualitative (2017) (0)
EVER2 Deficiency is Associated with Mild (2013) (0)
Prurit et hyperéosinophilie, révélateurs d’une infection fongique invasive (2012) (0)
A New Form of Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused By Abolished Store-Operated Ca2+ Entry (2018) (0)
[The French-Speaking Pediatric Research Society: in danger of extinction?]. (2009) (0)
Bayesian Modeling Immune Reconstitution Apply to CD34+ Selected Stem Cell Transplantation for Severe Combined Immunodeficiency (2022) (0)
Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever. (2020) (0)
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity. (2023) (0)
Successful Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide in a Severe Combined Immune Deficiency Patient: a First Report (2016) (0)
mTOR inhibition counterbalances the inflammatory status of immune cells in Chronic Granulomatous Disease. (2016) (0)
Rôle de l’antigène galactomannane dans le lavage broncho-alvéolaire (2013) (0)
Myeloid and Non-Myeloid Cells TLR / IL-1 R Responses in Human Defective Post-Transcriptional Detection and Characterization of Mutation ( Q 293 X ) : RapidIRAK (2006) (0)
Activated PI3-Kinase Delta Syndrome: Clinical, Radiological And Laboratory Features Of A Large Cohort. (2015) (0)
Life-threatening pulmonary interstitial lung disease complicating pediatric nonhumoral immunodeficiencies. (2019) (0)
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies (2017) (0)
Hyper IgE et gonalgie (2015) (0)
Rémission complète rapide d’un mycosis fongoïde transformé (stade IV) après une cure de brentuximab avant allogreffe de moelle osseuse (2013) (0)
Prevalence of Diagnosed Primary Immunodeficiencies Diseases in France: Results From the French National Registry and the CEREDIH Network. (2009) (0)
Chronic Aichi virus infection as a cause of long-lasting multi-organ involvement in patients with primary immune deficiencies. (2023) (0)
Fréquence de réalisation des bilans de déficits immunitaires au décours d’une infection bactérienne communautaire de l’enfant : étude en population (2018) (0)
Topoisomerase 2 b mutation impairs early B cell development (2020) (0)
Novel mutations in CRAC channel protein Orai1 cause immunodeficiency associated with non-immunological disease (89.23) (2007) (0)
Peculiar hyper-IgM syndrome. Case report / Sindrom hiper-IgM atipic. Prezentare de caz (2015) (0)
MANAGEMENT OF DOCK8 DEFICIENCY BY HEMATOPOIETIC STEM CELL TRANSPLANTATION (HSCT) (2012) (0)
First Case of X-linked Recessive Anhidrotic Ectodermal Dysplasia with Immunodeficiency from Iran with Unusual Aspergillus infection (2019) (0)
Infections pulmonaires à mycobactéries non tuberculeuses sans facteur favorisant (2019) (0)
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients inactivating mutations in DOCK8 cause a combined immunodeficiency characterized by severe pathogen infections, (2019) (0)
[STAT3 mutation identified in patients with Hyper-IgE syndrome]. (2008) (0)
Correction to: A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency (2020) (0)
Le déficit en dedicator of cytokinesis 8 gene (DOCK8) : à propos d’un nouveau cas (2014) (0)
Hemophagocytic Lymphohistiocytosis and Diagnostic Difficulties (2019) (0)
Mutation dans le gène STAT3 chez des patients avec un syndrome Hyper-IgE (2008) (0)
Immunisation contre le rituximab au cours du pemphigus (2014) (0)
A very uncommon cause of acute kidney injury in infancy. (2021) (0)

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