Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
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CD20 deficiency in humans results in impaired T cell-independent antibody responsesInternational Consensus Document (ICON): Common Variable Immunodeficiency DisordersHumoral immunodeficiency : awareness for better supportComparison of diagnostic criteria for common variable immunodeficiency disorderEffect of TACI signaling on humoral immunity and autoimmune diseasesDeleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunityUnbalanced Immune System: Immunodeficiencies and AutoimmunityEducational paper: primary antibody deficienciesUpdate in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditionsProtective antiviral antibody responses in a mouse model of influenza virus infection require TACINext Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.Autoimmunity in primary immune deficiency: taking lessons from our patients.Autoimmune cytopenias in common variable immunodeficiency.Common variable immunodeficiency: etiological and treatment issues.The many faces of common variable immunodeficiency.What does tympanostomy tube placement in children teach us about the association between atopic conditions and otitis media?Immunoglobulin G subclass deficiency is the major phenotype of primary immunodeficiency in a Korean adult cohort.How I treat common variable immune deficiency.Risks for infection in patients with asthma (or other atopic conditions): is asthma more than a chronic airway disease?Autoimmunity in common variable immunodeficiency.Role of B cells in common variable immune deficiency.Morbidity and mortality in common variable immune deficiency over 4 decadesUse of combination chemotherapy for treatment of granulomatous and lymphocytic interstitial lung disease (GLILD) in patients with common variable immunodeficiency (CVID).A BAFF-R mutation associated with non-Hodgkin lymphoma alters TRAF recruitment and reveals new insights into BAFF-R signaling.Innate control of B cell responses.Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections.The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiencyTACI deficiency enhances antibody avidity and clearance of an intestinal pathogenDifferential induction of plasma cells by isoforms of human TACI.Proteomic analysis of sera from common variable immunodeficiency patients undergoing replacement intravenous immunoglobulin therapy.Requirement for BAFF and APRIL during B cell development in GALTToll-like receptor function in primary B cell defects.Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.Toll-like receptor signaling in primary immune deficiencies.TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeCommon Variable Immunodeficiency and Circulating TFHClinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes.Heterozygous alterations of TNFRSF13B/TACI in tonsillar hypertrophy and sarcoidosis.
P2860
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P2860
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Relevance of biallelic versus ...... antibody deficiency syndromes
@en
Relevance of biallelic versus ...... antibody deficiency syndromes.
@nl
type
label
Relevance of biallelic versus ...... antibody deficiency syndromes
@en
Relevance of biallelic versus ...... antibody deficiency syndromes.
@nl
prefLabel
Relevance of biallelic versus ...... antibody deficiency syndromes
@en
Relevance of biallelic versus ...... antibody deficiency syndromes.
@nl
P2093
P2860
P50
P1433
P1476
Relevance of biallelic versus ...... antibody deficiency syndromes
@en
P2093
A David B Webster
Alejandro A Schäffer
Alessandro Plebani
Andrew McLean-Tooke
Are M Holm
Astrid Bergbreiter
Bernd H Belohradsky
Bodo Grimbacher
Chiara Bacchelli
Daniel Suez
P2860
P304
P356
10.1182/BLOOD-2008-02-141937
P407
P577
2008-11-03T00:00:00Z