Bodo Grimbacher

Q: What Schools Are Affiliated With Bodo Grimbacher

Bodo Grimbacher is affiliated with the following schools: University of Freiburg, University College London, Stanford University, University of California, San Francisco

Bodo Grimbacher's AcademicInfluence.com Rankings

Bodo Grimbacher

Philosophy

#9192

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#12713

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Logic

#6180

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#7668

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philosophy Degrees

Bodo Grimbacher

Biology

#12574

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#16059

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Immunology

#845

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#868

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biology Degrees

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Bodo Grimbacher'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

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. (2009) (1247)
STAT3 mutations in the hyper-IgE syndrome. (2007) (1092)
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency (2003) (752)
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. (1999) (729)
A homozygous CARD9 mutation in a family with susceptibility to fungal infections. (2009) (718)
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3 (2008) (687)
Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations (2014) (672)
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans (2005) (522)
An antibody-deficiency syndrome due to mutations in the CD19 gene. (2006) (517)
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. (2009) (477)
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) (2007) (460)
Common variable immunodeficiency disorders: division into distinct clinical phenotypes. (2008) (452)
Clinical picture and treatment of 2212 patients with common variable immunodeficiency. (2014) (450)
B-cell biology and development. (2013) (443)
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. (2012) (433)
ICOS Deficiency Is Associated with a Severe Reduction of CXCR5+CD4 Germinal Center Th Cells1 (2006) (402)
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. (2016) (394)
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. (2012) (388)
Genetic linkage of hyper-IgE syndrome to chromosome 4. (1999) (372)
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans (2009) (343)
A syndrome with congenital neutropenia and mutations in G6PC3. (2009) (315)
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study (2017) (314)
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. (2019) (306)
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88 (2010) (297)
Deep dermatophytosis and inherited CARD9 deficiency. (2013) (288)
Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. (2006) (279)
The phenotype of human STK4 deficiency. (2011) (273)
The European internet‐based patient and research database for primary immunodeficiencies: results 2006–2008 (2009) (261)
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. (2004) (255)
Human recombinant interferon alfa-2a for the treatment of Behçet's disease with sight threatening posterior or panuveitis (2003) (252)
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. (2010) (248)
Infant colitis—it's in the genes (2010) (247)
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. (2008) (241)
DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients (2015) (238)
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. (2016) (233)
IL‐10 and IL‐10 receptor defects in humans (2011) (230)
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. (2013) (228)
ICOS deficiency in patients with common variable immunodeficiency. (2004) (201)
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14 (2007) (184)
The European internet‐based patient and research database for primary immunodeficiencies: results 2004–06 (2007) (184)
Genetic CD21 deficiency is associated with hypogammaglobulinemia. (2012) (183)
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. (2015) (180)
Soluble BAFF Levels Inversely Correlate with Peripheral B Cell Numbers and the Expression of BAFF Receptors (2012) (175)
Hyper‐IgE syndromes (2005) (172)
"A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011? (2011) (162)
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. (2013) (162)
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies. (2015) (160)
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. (2014) (158)
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. (2015) (158)
Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. (2007) (157)
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. (2013) (144)
Phenotype, penetrance, and treatment of 133 cytotoxic T‐lymphocyte antigen 4–insufficient subjects (2018) (141)
CVID-associated TACI mutations affect autoreactive B cell selection and activation. (2013) (136)
An update on the hyper-IgE syndromes (2012) (131)
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis (2017) (124)
The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012 (2014) (119)
IL-10 in humans: lessons from the gut, IL-10/IL-10 receptor deficiencies, and IL-10 polymorphisms. (2014) (119)
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. (2006) (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)
CD161 expression characterizes a subpopulation of human regulatory T cells that produces IL-17 in a STAT3-dependent manner (2013) (116)
Hypogammaglobulinaemia after rituximab treatment-incidence and outcomes. (2014) (116)
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity (2018) (116)
Evaluation of correlation between dose and clinical outcomes in subcutaneous immunoglobulin replacement therapy (2012) (115)
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency (2007) (113)
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. (2008) (113)
Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. (2015) (112)
Efficacy and safety of Hizentra(®) in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapy. (2011) (109)
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 (2014) (107)
Differential efficacy of human recombinant interferon-alpha2a on ocular and extraocular manifestations of Behçet disease: results of an open 4-center trial. (2004) (98)
The Role of ICOS in Directing T Cell Responses: ICOS-Dependent Induction of T Cell Anergy by Tolerogenic Dendritic Cells1 (2009) (97)
Autoimmunity and primary immunodeficiency: two sides of the same coin? (2017) (97)
What did we learn from CTLA‐4 insufficiency on the human immune system? (2019) (95)
Human NACHT, LRR, and PYD domain–containing protein 3 (NLRP3) inflammasome activity is regulated by and potentially targetable through Bruton tyrosine kinase (2017) (94)
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood (2017) (93)
Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. (2000) (93)
The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects. (2016) (91)
ZNF341 controls STAT3 expression and thereby immunocompetence (2018) (90)
The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data (2018) (89)
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency (2016) (89)
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. (2015) (89)
Inflammatory bowel disease: is it a primary immunodeficiency? (2011) (88)
The TH1 phenotype of follicular helper T cells indicates an IFN‐&ggr;–associated immune dysregulation in patients with CD21low common variable immunodeficiency (2017) (87)
Pathogenic Fungi Regulate Immunity by Inducing Neutrophilic Myeloid-Derived Suppressor Cells (2015) (85)
The role of costimulation in antibody deficiencies: ICOS and common variable immunodeficiency (2009) (85)
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease (2019) (82)
Dynamics in protein translation sustaining T cell preparedness (2020) (81)
Common variable immunodeficiency: an update on etiology and management. (2008) (80)
Lymphoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics (2008) (79)
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. (2019) (78)
Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype (2015) (76)
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency (2016) (76)
Lung disease in primary antibody deficiency. (2015) (75)
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets (2016) (72)
Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation. (2016) (72)
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 (2019) (71)
The German national registry for primary immunodeficiencies (PID) (2013) (70)
Reduced memory B cells in patients with hyper IgE syndrome. (2008) (70)
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells (2015) (69)
Successful treatment of gastrointestinal vasculitis due to systemic lupus erythematosus with intravenous pulse cyclophosphamide: a clinical case report and review of the literature. (1998) (69)
Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. (2012) (69)
Treatment of Progressive Multifocal Leukoencephalopathy with Pembrolizumab. (2019) (68)
Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. (2012) (67)
Chronic mucocutaneous candidiasis and congenital susceptibility to Candida (2010) (65)
Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus (2012) (65)
Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy. (2007) (65)
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency (2015) (65)
Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis. (2014) (65)
The hyper IgE syndrome and mutations in TYK2. (2007) (64)
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (2020) (64)
Decrease in phenotypic regulatory T cells in subsets of patients with common variable immunodeficiency (2009) (64)
Patients' Attitude to Subcutaneous Immunoglobulin Substitution as Home Therapy (2006) (63)
Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients (2013) (63)
Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers (2018) (63)
Deconstructing common variable immunodeficiency by genetic analysis. (2007) (62)
A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency. (2014) (62)
Common variable immunodeficiency: The power of co-stimulation. (2006) (58)
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q (2006) (58)
Home-based subcutaneous immunoglobulin G replacement therapy under real-life conditions in children and adults with antibody deficiency (2010) (55)
TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity?: New genetic defects in common variable immunodeficiency (2005) (54)
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency. (2015) (54)
The German National Registry of Primary Immunodeficiencies (2012–2017) (2019) (52)
Immunoglobulin E in primary immunodeficiency diseases (2002) (50)
Defi ciency of Th 17 cells in hyper IgE syndrome due to mutations in STAT 3 Cindy (2008) (49)
Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. (2020) (48)
The ESID Online Database network (2007) (48)
Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X) (2015) (48)
Rescue of Cytokine Storm Due to HLH by Hemoadsorption in a CTLA4-Deficient Patient (2017) (47)
Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation. (2017) (47)
The immunological synapse for B-cell memory: the role of the ICOS and its ligand for the longevity of humoral immunity (2003) (47)
Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency. (2016) (47)
14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency (2017) (46)
Comparison of American and European practices in the management of patients with primary immunodeficiencies (2012) (46)
TNF-αα induces the transcription factor Egr-1, pro-inflammatory cytokines and cell proliferation in human skin fibroblasts and synovial lining cells (1998) (44)
The expansion of human T-bethighCD21low B cells is T cell dependent (2021) (44)
Efficacy and Safety of Hizentra®, a New 20% Immunoglobulin Preparation for Subcutaneous Administration, in Pediatric Patients with Primary Immunodeficiency (2011) (44)
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding (2014) (43)
Importance of B cell co‐stimulation in CD4+ T cell differentiation: X‐linked agammaglobulinaemia, a human model (2011) (43)
Mannose‐binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency (2008) (43)
Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency. (2011) (42)
Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q (2006) (42)
The European Society for Immunodeficiencies (ESID) registry 2014 (2014) (41)
Common variable immunodeficiency in children (2007) (41)
Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation. (2016) (40)
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 (2022) (40)
The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. (1998) (39)
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis. (2012) (39)
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. (2001) (39)
Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency (2017) (38)
Hyper-IgE syndromes: reviewing PGM3 deficiency (2014) (37)
Screening of functional and positional candidate genes in families with common variable immunodeficiency (2008) (37)
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex (2015) (36)
NFKB1 regulates human NK cell maturation and effector functions. (2017) (36)
Naturally Occurring Genetic Variants of Human Caspase‐1 Differ Considerably in Structure and the Ability to Activate Interleukin‐1β (2013) (36)
Therapeutic options for CTLA-4 Insufficiency. (2021) (36)
Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations. (2021) (35)
Disturbed canonical nuclear factor of &kgr; light chain signaling in B cells of patients with common variable immunodeficiency (2017) (35)
Activity, Severity and Impact of Respiratory Disease in Primary Antibody Deficiency Syndromes (2013) (35)
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1) (2017) (34)
CHLAMYDIA INFECTION (2001) (34)
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation (1999) (34)
Glucagon like peptide-2 for Intestinal stem cell and Paneth cell repair during graft-versus-host disease in mice and humans. (2020) (34)
Pathogen-specific IgG antibody levels in immunodeficient patients receiving immunoglobulin replacement do not provide additional benefit to therapeutic management over total serum IgG. (2011) (33)
Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation. (2016) (33)
Signaling mechanisms inducing hypo-responsiveness of phagocytes during systemic inflammation. (2019) (31)
Serum response elements activate and cAMP responsive elements inhibit expression of transcription factor Egr-1 in synovial fibroblasts of rheumatoid arthritis patients. (1999) (30)
Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency (2019) (29)
Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency (2015) (29)
“Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology (2018) (29)
Treatment of acute exacerbation of systemic lupus erythematosus with high-dose intravenous immunoglobulin. (2000) (29)
Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency. (2019) (29)
The phenotype of human STK 4 deficiency (2012) (29)
BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activity (2019) (28)
Human Recombinant Interferon-α2a (rhIFNα2a) for the Treatment of Behçet’s Disease with Sight-Threatening Retinal Vasculitis (2004) (28)
Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis. (2017) (28)
To switch or not to switch – the opposing roles of TACI in terminal B cell differentiation (2007) (28)
Immunological phenotype of the murine Lrba knockout (2017) (27)
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. (2019) (27)
Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3. (2013) (27)
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice (2021) (26)
Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency (2017) (26)
Serum trough IgG level and annual intravenous immunoglobulin dose are not related to body size in patients on regular replacement therapy. (2011) (26)
Primary immunodeficiency registries (2007) (25)
Lactose-intolerance may induce severe chronic eczema. (1997) (24)
Mitochondrial DNA and sperm quality in patients under antiretroviral therapy. (2002) (24)
CTLA-4 regulates human Natural Killer cell effector functions. (2018) (24)
Sequence Analysis of TNFRSF13b, Encoding TACI, in Patients with Systemic Lupus Erythematosus (2007) (23)
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1 (2019) (23)
Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group (2018) (22)
Low ficolin‐2 levels in common variable immunodeficiency patients with bronchiectasis (2015) (22)
Finally found: Human BAFF-R deficiency causes hypogammaglobulinemia. (2005) (22)
Clinical and laboratory correlates of lung disease and cancer in adults with idiopathic hypogammaglobulinaemia (2016) (22)
Common variable immunodeficiency is associated with a functional deficiency of invariant natural killer T cells. (2014) (22)
Human recombinant interferon-alpha2a (rhIFN alpha2a) for the treatment of Behçet's disease with sight-threatening retinal vasculitis. (2003) (21)
GRAND ROUNDS IN RHEUMATOLOGY EDITED BY D. L. SCOTT SUCCESSFUL TREATMENT OF GASTROINTESTINAL VASCULITIS DUE TO SYSTEMIC LUPUS ERYTHEMATOSUS WITH INTRAVENOUS PULSE CYCLOPHOSPHAMIDE: A CLINICAL CASE REPORT AND REVIEW OF THE LITERATURE (1998) (21)
Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity (2003) (21)
Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency (2018) (21)
Bringing immunoglobulin knowledge up to date: how should we treat today? (2011) (21)
Health-Related Quality of Life and Health Resource Utilization in Patients with Primary Immunodeficiency Disease Prior to and Following 12 Months of Immunoglobulin G Treatment (2016) (20)
TACI triggers immunoglobulin class switching by activating B cells through the adaptor protein MyD88 (2010) (19)
The use of databases in primary immunodeficiencies (2014) (19)
Mutational Analysis of Human BLyS in Patients with Common Variable Immunodeficiency (2006) (19)
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea (2017) (19)
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families (2009) (19)
Bile acids regulate intestinal antigen presentation and reduce graft-versus-host disease without impairing the graft-versus-leukemia effect (2020) (18)
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs (2022) (18)
Diagnosis of idiopathic myositis: value of 99mtechnetium pyrophosphate muscle scintigraphy and magnetic resonance imaging in targeted muscle biopsy (1998) (18)
The Genetics of Hypogammaglobulinemia (2004) (17)
Interdisciplinary approach towards a systems medicine toolbox using the example of inflammatory diseases (2016) (17)
A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS (2020) (17)
Ten-Year Follow-Up of a DOCK8-Deficient Child With Features of Systemic Lupus Erythematosus (2014) (17)
CD 161 expression characterizes a subpopulation of human regulatory T cells that produces IL-17 in a STAT 3-dependent manner (2013) (17)
Human transmissible spongiform encephalopathies. (1998) (16)
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency (2021) (16)
Monogenetic defects in common variable immunodeficiency: what can we learn about terminal B cell differentiation? (2006) (16)
The architecture of the IgG anti-carbohydrate repertoire in primary antibody deficiencies (PADs). (2019) (16)
Nuclear factor κB mutations in human subjects: The devil is in the details. (2018) (15)
Measurement of transcription factor c-fos and EGR-1 mRNA transcription levels in synovial tissue by quantitative RT-PCR (1997) (15)
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy. (2017) (15)
Loss of vision and diarrhoea (1997) (15)
Plasma cell deficiency in humans with heterozygous mutations in SEC61A1 (2017) (14)
Important Factors Influencing Severity of Common Variable Immunodeficiency. (2016) (14)
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes (2021) (14)
Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea (2020) (14)
Pneumocystis jirovecii pneumonia in a baby with hyper-IgE syndrome (2009) (13)
Sequence Analysis of BIRC4/XIAP in Male Patients with Common Variable Immunodeficiency (2008) (13)
There is no gene for CVID - novel monogenetic causes for primary antibody deficiency. (2021) (13)
Therapeutic Management of Primary Immunodeficiency in Older Patients (2013) (13)
A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity. (2018) (13)
Toll-Like Receptor Stimulation Induces Higher TNF-α Secretion in Peripheral Blood Mononuclear Cells from Patients with Hyper IgE Syndrome (2008) (13)
Evidence for non-neutralizing autoantibodies against IL-10 signalling components in patients with inflammatory bowel disease (2014) (13)
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients (2020) (13)
Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome (2021) (12)
Immunodeficiencies (2009) (12)
Reduced Bone Density in Patients with Autosomal Dominant Hyper-IgE Syndrome (2013) (12)
Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia? (2018) (11)
Invasive dermatophyte infection with Trichophyton interdigitale is associated with prurigo‐induced pseudoperforation and a signal transducer and activator of transcription 3 mutation (2018) (10)
Construction and Clinical Validation of a Questionnaire-based Risk Score to Identify Patients Suffering from Immunodeficiency or Systemic Autoimmunity (2014) (10)
Autoantibodies against BAFF, APRIL or IL21 - an alternative pathogenesis for antibody-deficiencies? (2017) (10)
Mucosal antifungal defence: IL‐17 signalling takes centre stage (2011) (10)
Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation (2021) (10)
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES). (2012) (10)
A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage (2021) (9)
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32 (2021) (9)
A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1). (2019) (9)
Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patients (2021) (8)
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study (2021) (8)
[The ESID Online Database for primary immunodeficiencies. First analyses with regard to Germany and Europe]. (2008) (8)
Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a Hyper-IgE and a Dubowitz-like syndrome (2011) (8)
Diagnosis of DOCK8 deficiency using Flow cytometry Biomarkers: an Egyptian Center experience. (2018) (7)
Hyper-IgE Recurrent Infection Syndromes (2013) (7)
DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients (2015) (7)
TACI deficiency - a complex system out of balance. (2021) (7)
[Adult-onset primary immunodeficiencies]. (2004) (7)
Safety and efficacy of abatacept in patients with treatment-resistant SARCoidosis (ABASARC) – protocol for a multi-center, single-arm phase IIa trial (2020) (6)
Mutations in TACI are associated with immunodeficient phenotypes in humans. (2005) (6)
The Extended Clinical Phenotype of 58 Patients with Dock8 Deficiency (2014) (6)
The hyper-IgE syndrome is not caused by a microdeletion syndrome (2007) (6)
ADA2 is a lysosomal DNase regulating the type-I interferon response (2020) (6)
Novel humoral immunodeficiency in humans associated with deleterious homozygous mutation in CD19. (2005) (6)
The diagnosis of hyper immunoglobulin e syndrome based on project management. (2015) (6)
HUMAN INVASIVE DERMATOPHYTIC DISEASE IS CAUSED BY INBORN ERRORS OF CARD9 (2012) (5)
FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency (2019) (5)
Dysregulated PI3K Signaling in B Cells of CVID Patients (2022) (5)
[Molecular basis of common variable immunodeficiency]. (2007) (5)
Structural non-infectious manifestations of the central nervous system in common variable immunodeficiency disorders. (2019) (5)
DOCK8 deficiency in six Iranian patients (2016) (5)
Defective TLR9-driven STAT3 activation in B cells of patients with CVID. (2018) (5)
What can clinical immunology learn from inborn errors of epigenetic regulators? (2021) (5)
Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family (2018) (5)
Non permissive bone marrow environment impairs early B-cell development in common variable immunodeficiency. (2020) (5)
Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. (2022) (5)
Genomic characterization of lymphomas in patients with inborn errors of immunity (2022) (5)
A Variant of Congenital Neutropenia Is Caused by a 3′-UTR Mutation in the Gene Encoding the Endosomal Adaptor Protein p14 ( MAPBPIP ). (2005) (5)
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction (2019) (4)
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis (2021) (4)
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency (2021) (4)
Hyper-IgE-Syndrom (2002) (4)
Differences in Clinical Outcome in Patients with Common Variable Immunodeficiency Treated with Ig Replacement Therapy: Results from the ESID Database (2011) (4)
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation (2021) (4)
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie (2020) (4)
A novel clinical syndrome associating severe congenital neutropenia and complex developmental aberrations caused by deficiency of G6PC(3) (2008) (3)
Treatment of STAT3 Deficient Hyper IgE Syndrome with Monoclonal Antibodies Targeting Allergic Inflammation. (2022) (3)
Susceptibility to fungal infections due to a homozygous mutation in CARD9 (2010) (3)
Chronic mucocutaneous candidiasis is associated with a homozygous mutation in CARD9 (2008) (3)
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 (2015) (3)
The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trial (2022) (3)
T.23. The Clinical and Immunological Phenotype of Human CD21 Deficiency (2009) (3)
Treatment of ocular Behcet's disease (BD) with recombinant human interferon-alpha 2a (rhIFN-alpha 2a) - A three center pilot study (1998) (3)
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia (2021) (3)
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains (2022) (3)
Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency (2019) (2)
Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease. (2019) (2)
[The ESID Online Database for primary immunodeficiencies]. (2008) (2)
MHC class 2 deficiency and X‐linked agammaglobulinaemia in a consanguineous extended family (2009) (2)
Defects in B Cell Survival and Activation (2016) (2)
Mutation screening in STAT1, CARD9 and PKC-DELTA in patients with chronic mucocutaneous candidiasis (2012) (2)
F.112. Human BAFF-R Deficiency is Associated with Primary Antibody Deficiency Syndrome (2009) (2)
Successful Allogeneic Hematopoietic Stem Cell Transplantation for Severe Inflammatory Bowel Disease – IL10 Receptor Deficiency May Serve as a Novel Therapeutic Paradigm (2010) (2)
Explorer The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT 1 (2015) (2)
Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies (2016) (2)
Early-onset inflammatory bowel disease caused by mutant IL10 receptor (2010) (2)
Cancer Tendency in a Patient with ZNF341 Deficiency (2020) (2)
BAFFR activates PI3K/AKT signaling in human naive but not in switched memory B cells through direct interactions with B cell antigen receptors. (2022) (2)
Therapeutic targeting of endoplasmic reticulum stress in acute graft-versus-host disease (2021) (2)
Human Recombinant Interferon-alpha2a in the Treatment of Behcet's Disease with Sight Threatening Retinal Vasculitis (2003) (2)
Health-Related Quality of Life of Patients with Primary Immunodeficiency Switching from Intravenous IgG to a New 20% Subcutaneous IgG (2010) (2)
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency–Associated Villous Atrophy and Norovirus Infection (2022) (1)
Hypothyroidism, Congenital (2005) (1)
Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells (2022) (1)
Autosomal Dominant Common Variable Immunodeficiency in a Large Pedigree (2006) (1)
The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease. (2022) (1)
Hyper IgE syndrome (2004) (1)
Inborn errors of immunity associated with defects of self‐tolerance checkpoints: The CD28 family (2022) (1)
Diagnostic criteria for the hyper IgE recurrent infection syndrome/job's syndrome/STAT3 deficiency (2008) (1)
P246 Airway and systemic inflammation in stable and exacerbated bronchiectasis: a pilot study (2011) (1)
Management of DOCK8 deficiency by haematopoietic stem cell transplantation (2012) (1)
Efficacy of recombinant human interferon-alfa2a on ocular and extra-ocular manifestations of Behçet's disease and influence on cells of the immune system: results of an open four center trial (2003) (1)
The German PID-net registry (2017) (1)
Differences in Ig Replacement Therapy Dosing in Patients with Common Variable Immunodeficiency in Europe: Results from the ESID Database (2011) (1)
Transmembrane Activator and Calcium-Modulator and Cyclophilin Ligand Interactor (TACI) Expression is Essential for Human B-cell Tolerance (2010) (1)
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders (2022) (1)
Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI (2022) (1)
Human CARD11 deficiency causes profound combined immunodeficiency (P3325) (2013) (1)
Cellular Immunology and Immune Regulation (2008) (1)
Chloroquine for treatment of COVID-19 (2020) (1)
Early-onset inflammatory bowel disease caused by loss-of-function mutations in the IL10-receptor genes (2009) (1)
Clinical Presentation and Long-Term Outcome of Dock8 Deficiency - A Survey of 134 Patients (2012) (1)
Furtger insights into human CD21 deficiency (2008) (1)
Hermansky-Pudlak syndrome, type 2 gene causing (2013) (1)
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50 (2022) (1)
Genetic analysis of autosomal dominant Common Variable Immunodeficiency (2007) (0)
Deciphering the molecular cause of CVID using sequenced exomes of 200 patients. (2018) (0)
The ESID online clinical and research database (2006) (0)
The dysmorphology and genetics of job hyper IgE syndrome. (1997) (0)
Subversion of human CD4(+)CD25(+) regulatory T cells to IL-17-producing T cells by an inflammatory milieu (2009) (0)
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences. (2023) (0)
Update in Epidemiology of Primary immunodeficiencies in Europe (2009) (0)
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation (2021) (0)
Identification of genes mutated in autosomal-recessive hyper-IgE syndrome (2008) (0)
Iconographies supplémentaires de l'article : Genetic CD21 deficiency is associated with hypogammaglobulinemia (2012) (0)
Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family (2018) (0)
Supplementary material : A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T H 17 immunity (2018) (0)
The Impact of TACI Mutations on Health and CVID (2012) (0)
IMMUNOSUPPRESSIVE TREATMENT FOR AUTOIMMUNITY, LYMPHOPROLIFERATION AND GRANULOMATOUS COMPLICATIONS IN PATIENTS WITH CVID (2012) (0)
Common immunodeficiency in children (2007) (0)
Reduced Bone Density in Patients with Autosomal Dominant Hyper-IgE Syndrome (2013) (0)
Homozygous loss of ICOS causes adult-onset common variable immunodeficiency (2003) (0)
Integrated Multi-omics Analyses of NFKB1 patients B cells points towards an up regulation of NF-κB network inhibitors (2022) (0)
Expression of BAFF Receptors with Peripheral B Cell Numbers and the Soluble BAFF Levels Inversely Correlate (2011) (0)
ARPC5 deficiency leads to severe early onset systemic inflammation and early mortality (2023) (0)
Dock8 Deficiency and a Diagnostic Score to Differentiate It From Other Hyper-Ige Syndromes (2012) (0)
Gain-of-function mutations in STAT1: A new molecular cause for patients with chronic mucocutaneous candidiasis (2012) (0)
[Primary immunodeficiency]. (2013) (0)
S-6-Kinopathies (2016) (0)
[Treatment of primary immune defects]. (2005) (0)
Expression of FoxP3 and CD25 in T Cells is Altered in ICOS-/- Common Variable Immunodeficiency (CVID) patients (2007) (0)
Health-Related Quality of Life and Health Resource Utilization in Patients with Primary Immunodeficiency Disease Prior to and Following 12 Months of Immunoglobulin G Treatment (2016) (0)
Hodgkin Lymphoma after Disseminated Mycobacterium genavense Infection, Germany (2022) (0)
CTLA-4 Deficiency - A Novel Autosomal-Dominant Immune Dysregulation Syndrome (2014) (0)
A Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies (2023) (0)
A Multicentre Approach to Document Bronchial Pathology in Computed Tomography of the Chest: Data from the Chest CT in Antibody-Deficiency Group (2014) (0)
A ROLE FOR INO80, A CORE PROTEIN OF A CHROMATIN REMODELING COMPLEX, IN CLASS SWITCH RECOMBINATION (2012) (0)
Hyper Immunogobulin E Syndrome: A Report on DOCK8 Mutations in Iranian Patients (2014) (0)
COMPARING QOL SCORES FOR PATIENTS WITH IMMUNODEFICIENCIES RECEIVING IV OR SC IMMUNOGLOBULIN THERAPY, AT A SPECIALIST CENTRE OR LOCAL HOSPITAL OR AT HOME (2012) (0)
Dermatophytosis and STAT3 mutation (2018) (0)
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation (2023) (0)
variants in antibody deficiency syndromes TNFRSF13B distinguishing disease-causing from risk-increasing mutations in TNFRSF13B Relevance of biallelic versus monoallelic (2009) (0)
Contents, Vol. 113, 1997 (1997) (0)
Increased Factor IX (2009) (0)
NEW DEFICIENCY CAUSING EARLY-ONSET CVID: HOW TO DIAGNOSE LRBA DEFECTS? (2012) (0)
Genetic linkage in autosomal recessive common variable immunodeficiency (2008) (0)
Late Asthmatic Reaction Induced by Exposure to Raw Swiss Chard (2010) (0)
Severe Early-Onset Inflammatory Bowel Disease Caused by IL10 Receptor Deficiency Can Be Cured by Allogeneic Hematopoietic Stem Cell Transplantation. (2009) (0)
XIAP DEFICIENCY: PHENOTYPIC DIVERSITY BEYOND HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (2012) (0)
Efficacy of Dupilumab for the treatment of severe skin disease in Cytotoxic T-Lymphocyte Antigen–4 Insufficiency: a role of type 2 inflammation? (2022) (0)
Reply: To PMID 24582167. (2014) (0)
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants. (2021) (0)
Cornea Farinata and other Variants (2009) (0)
Heterozygous mutations in CTLA-4 are associated with defective regulatory T-cell function, causing an immune dysregulation syndrome in humans (2014) (0)
Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice (2022) (0)
Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group (2019) (0)
Assessment Of The Quality Of Life and Health Resource Utilization Burden Among Patients With Primary Immunodeficiency Disorder (PIDD) Prior To Treatment (2014) (0)
Common variable immunodeficiency (CVID) is associated with quantitative and qualitative deficiencies of iNKT cells (2010) (0)
The influence of mannose-binding lectin gene polymorphic variants on phenotypic manifestation of common variable immunodeficiency (2008) (0)
DELETERIOUS LRBA MUTATIONS IN A NOVEL SYNDROME OF IMMUNE DEFICIENCY AND AUTOIMMUNITY (2012) (0)
Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry (2020) (0)
Clinical Presentation, Long-Term Outcome and Therapeutic Management of DOCK8 Deficiency-an International Survey of 125 Patients (2012) (0)
Primary immunodeficiencies of the NF-kappaB pathway (2017) (0)
Subject Index, Vol. 113, 1997 (1997) (0)
In vitro induction of class switch recombination to IgG1 is favored by stimulation via BCR, CD40, TLR9 and BAFF (2009) (0)
Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group (2019) (0)
5 th European Workshop on Immune-Mediated Inflammatory Diseases (0)
Common Variable Immunodeficiency (CVID) in Adults As First Manifestation of (cryptic) Dyskeratosis Congenita (2019) (0)
Subversion of Human CD4+CD25+Regulatory T Cells to IL-17-Producing T Cells by Pathogen-induced Inflammatory Milieu (2008) (0)
reveal isoform-dependent genotype-phenotype associations Novel HAX1 mutations in patients with severe congenital neutropenia (2013) (0)
DOCK8 Deficiency and Diagnostic Guidelines for Hyper-IgE Syndromes (2012) (0)
Fecal Immunoglobulin Levels as a Modifier of the Gut Microbiome in Patients with Common Variable Immunodeficiency. (2023) (0)
The UKPIN registry for primary immunodeficiencies (2008) (0)
Inducible Costimulator Deficiency (2009) (0)
Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? (2022) (0)
Chronic mucocutaneaous candidiasis is associated with a homozygous mutation in CARD9 (ESID Plenary Session VI : Novel Primary Immunodeficiencies and Late breakers) (2009) (0)
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie (2020) (0)
高IgE症候群(HIGE)患者における免疫固相化アレルゲンチップ(ISAC)を用いた血清IgEレパートリーの解析 (2010) (0)
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations. (2022) (0)
Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency (2016) (0)
INDUCTION OF EARLY GROWTH-RESPONSE GENE EGR-1 TRANSCRIPTION IN QUIESCENT FIBROBLASTS BY RHEUMATOID-ARTHRITIS (RA) SYNOVIAL FIBROBLAST CONDITIONED MEDIUM (1993) (0)
Chronic Mucocutaneous Candidiasis and Susceptibility to Fungal Infections Due to Defects in CARD9 and Dectin-1 (2013) (0)
Hyper-IgE recurrent infection syndrome (Hieris): New clinical features, family studies and a case with cytogenetic anomaly (1998) (0)
Successful Allogeneic Haematopoietic Stem Cell Transplantation In A Child With Severe Immunodeficiency 31-C (OMIM # 614162) Due To STAT1-GOF Mutation (2015) (0)
Multisystem findings and cytokine studies of immune disfunction in hyper IgE syndrome (2000) (0)
Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency (2015) (0)
Understanding the impact of patient-derived mutations on CTLA-4 expression and function (2016) (0)
Autoantibodies against BAFF, APRIL or IL21 - an alternative pathogenesis for antibody-deficiencies? (2017) (0)
CLEC16A Associates with Human Common Variable Immunodeficiency and Influences Murine B Cell Survival and Function (2014) (0)
Changes in Health-Related Quality of Life in Patients with Primary Immunodeficiency Disorder (PIDD) Between Time of Diagnosis and 12 Months after Initiation of Immunoglobulin (Ig) Therapy (2015) (0)
Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group (2018) (0)
Abatacept Treatment Is Safe in Patients with Steroid-Refractory Sarcoidosis (2022) (0)
Heterozygous Mutations in NFKB2 Exhibit a Broad Clinical Phenotype (2018) (0)
Thirty-eight of 47 patients with autosomal-recessive hyper-IgE syndrome carry deletions and point mutations in Dock8 (2010) (0)
Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry (Preprint) (2019) (0)
Rescue of Cytokine Storm Due to HLH by Hemoadsorption in a CTLA4-Deficient Patient (2017) (0)
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome (2020) (0)
Chapter 61 – Registries (2014) (0)
Humoral immunodeficiency I: Antibody deficiency syndromes without familiar genetic defect (2004) (0)
Severe early onset ileo-colitis can be caused by mutations in IL10RB and successfully treated by allogeneic hematopoietic stem cell transplantation (2010) (0)
Humoral immunodeficiency II: Antibody deficiency syndromes with known genetic defect (2005) (0)
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023) (0)
The Many Faces of the Hyper-IgE Syndrome (2014) (0)
Cancer Tendency in a Patient with ZNF341 Deficiency (2020) (0)
Activity, Severity and Impact of Respiratory Disease in Primary Antibody Deficiency Syndromes (2013) (0)
MANAGEMENT OF DOCK8 DEFICIENCY BY HEMATOPOIETIC STEM CELL TRANSPLANTATION (HSCT) (2012) (0)
Chronic mucocutaneous candidiasis and its different faces (2014) (0)
Common Variable Immunodeficiency: More Pathways than Roads to Rome. (2022) (0)
Identiﬁcation of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2 (2006) (0)
LRBA balances antigen presentation and T-cell responses by facilitating autophagy through the binding to PIK3R4 and FYCO1 (2022) (0)
皮肤癣菌病和STAT3突变 (2018) (0)
To Viviane Knerr. The ESID-Online-Databank for primary immune defect (2008) (0)
TACI and CVID (2019) (0)
Using pathogen-specific antibody levels to monitor the adequacy of immunoglobulin replacement in antibody deficient patients (2008) (0)
Activated PI3-Kinase Delta Syndrome: Clinical, Radiological And Laboratory Features Of A Large Cohort. (2015) (0)
Evidence for non-neutralizing autoantibodies against IL-10 signalling components in patients with inflammatory bowel disease (2014) (0)
Allogeneic stem cell transplantation in patients with common variable immunodeficiency (2011) (0)
Autosomal dominant hyper-IgE syndrome clinical and genetic analysis of polish patients (2008) (0)
Inflammatory bowel disease: is it a primary immunodeficiency? (2011) (0)
Cell Anergy by Tolerogenic Dendritic Cells Responses: ICOS-Dependent Induction of T The Role of ICOS in Directing T Cell (2009) (0)
Trisomy X (2020) (0)
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility. (2023) (0)
Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice (2022) (0)
Identification of GATA-2 mutations using a simple screening procedure in patients with Papilloma virus infections (2012) (0)
LRBA deficiency, CMV disease, Lymphocytic Interstitial Pneumonitis (LIP) and early onset autoimmunity (2013) (0)

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