Bodo Grimbacher
#159,897
Most Influential Person Now
Researcher
Bodo Grimbacher's AcademicInfluence.com Rankings
Bodo Grimbacherphilosophy Degrees
Philosophy
#9192
World Rank
#12713
Historical Rank
Logic
#6180
World Rank
#7668
Historical Rank

Bodo Grimbacherbiology Degrees
Biology
#12574
World Rank
#16059
Historical Rank
Immunology
#845
World Rank
#868
Historical Rank

Download Badge
Philosophy Biology
Why Is Bodo Grimbacher Influential?
(Suggest an Edit or Addition)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)
This paper list is powered by the following services:
Other Resources About Bodo Grimbacher
What Schools Are Affiliated With Bodo Grimbacher?
Bodo Grimbacher is affiliated with the following schools: