Disease: Acquired Hypogammaglobulinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 AlteredExpression disease BEFREE Reduced BAFF-R and increased TACI expression in common variable immunodeficiency. 24809296 2014
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 Biomarker disease BEFREE TACI (transmembrane activator and calcium modulator and cyclophilin ligand interactor) mutations seem to be associated with autoimmunity and common variable immunodeficiency in humans. 21850030 2012
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency. 22076597 2012
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 Biomarker disease BEFREE Heterozygous deleterious mutations in the gene encoding the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and CAML interactor (TACI), have been associated with the development of common variable immunodeficiency. 21514638 2011
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Mutations in TNFRSF13B, the gene encoding transmembrane activator and calcium modulator cyclophilin ligand interactor (TACI), are found in 10% of patients with common variable immunodeficiency. 21458042 2011
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE This review focuses on mutations causing four different diseases, which represent distinct pathological mechanisms that can exist within these superfamilies: autoimmune lymphoproliferative syndrome (ALPS; FAS mutations), common variable immunodeficiency (CVID; TACI mutations), tumor necrosis factor receptor associated periodic syndrome (TRAPS; TNFR1 mutations) and hypohidrotic ectodermal dysplasia (HED; EDA1/EDAR mutations). 21724465 2011
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. 20156508 2010
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE TNFRSF13B, which encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), is mutated in 10% of patients with common variable immunodeficiency. 20889194 2010
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. 19629655 2009
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 19605846 2009
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Both biallelic and monoallelic TNFRSF13B mutations were identified in patients with common variable immunodeficiency disorders. 18981294 2009
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE TACI mutations and disease susceptibility in patients with common variable immunodeficiency. 19210517 2009
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Based on our recent finding that TACI is mutated in patients with common variable immunodeficiency, of whom more than 30% suffer from autoimmune conditions, we analyzed TACI in humans with SLE. 17464555 2007
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE B cells from patients with common variable immunodeficiency (CVID) who are heterozygous for transmembrane activator and CAML interactor (TACI) mutation C104R, which abolishes ligand binding, fail to produce Igs in response to TACI ligand. 17492055 2007
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE TACI mutation in common variable immunodeficiency and IgA deficiency. 16899196 2006
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE Using a candidate gene approach, we identified homozygous and heterozygous mutations in TNFRSF13B, encoding TACI, in 13 individuals with common variable immunodeficiency. 16007087 2005
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 GeneticVariation disease BEFREE TACI is mutant in common variable immunodeficiency and IgA deficiency. 16007086 2005
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 Biomarker disease BEFREE The recent discovery of genetic defects in the tumour necrosis factor receptor superfamily members TACI and BAFF receptor in patients with common variable immunodeficiency denotes further advances in this field. 16264328 2005
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 Biomarker disease BEFREE Viruses and bacteria in bronchoalveolar lavage fluids, protected specimen brush samples, and bronchial biopsies from 14 patients with primary hypogammaglobulinemia (11 patients with common variable immunodeficiency [CVID] and three patients with X-linked agammaglobulinemia [XLA]) were analyzed. 10194166 1999
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.400 Biomarker disease CTD_human