|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The recent discovery that some CVID patients show monogenic defects in the genes encoding ICOS, TACI or CD19 prompted us to investigate several functional candidate genes in individuals with CVID.
|
18254984 |
2008 |
|
TNFRSF13B
|
0.700 |
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 |
|
TNFRSF13B
|
0.700 |
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 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Disease-modifying heterozygous amino acid substitutions in TACI are found in around ±10% of CVID patients.
|
21815909 |
2011 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Both biallelic and monoallelic TNFRSF13B mutations were identified in patients with common variable immunodeficiency disorders.
|
18981294 |
2009 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A significant association of TNFRSF13B gene mutations was observed in both CVID (p=0.01) and IgAD (p=0.002) Czech patients.
|
22884984 |
2012 |
|
TNFRSF13B
|
0.700 |
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 |
|
TNFRSF13B
|
0.700 |
Biomarker
|
disease |
BEFREE |
Recently, several mutations in genes encoding for molecules (CD19, TACI, ICOS) involved in B cell survival and isotype switch have been identified in patients with CVID.
|
17173844 |
2007 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
B lymphocyte subpopulations, previously defined classification schemes (Freiburg, Paris, EuroClass), TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms were analyzed in 25 common variable immunodeficiency (CVID) patients and 25 healthy controls.
|
22699762 |
2012 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
TNFRSF13B, the gene which encodes transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), is mutated in nearly 10% of patients with common variable immune deficiency (CVID), an antibody deficiency syndrome characterized by loss of memory B cells and plasma cells.
|
18978466 |
2008 |
|
TNFRSF13B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.
|
29114388 |
2017 |
|
TNFRSF13B
|
0.700 |
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 |
|
TNFRSF13B
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
These results suggest that TACI mutations can result in CVID and IgAD.
|
16007086 |
2005 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This also confirms the previous suggestion that TNFRSF13B defects alone do not cause CVID and that such an extremely heterogeneous immunodeficiency might be more likely related to additional, still unknown environmental and genetic factors.
|
19494827 |
2009 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.
|
17392797 |
2007 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The candidate gene approach has led to the detection of associations between common variable immunodeficiency (CVID) and mutations in the genes TACI, ICOS, BAFF-R, CD19, CD20, and CD81.
|
21905497 |
2011 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
One of the 2 most common TACI mutations in CVID, A181E, introduces a negative charge into the transmembrane domain.
|
19605846 |
2009 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding TACI (TNFRSF13B) were previously found to be associated with CVID.
|
22076597 |
2012 |
|
TNFRSF13B
|
0.700 |
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 |
|
TNFRSF13B
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
TNFRSF13B
|
0.700 |
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 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This work demonstrates that TACI preassembles as an oligomeric complex prior to ligand binding and provides a mechanistic insight into how the heterozygous C104R TACI mutation can potentially lead to CVID.
|
17492055 |
2007 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.
|
17392798 |
2007 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, patients with CVID and IGAD have been found to have mutations of the gene TNFRSF13B encoding the TACI (transmembrane activator and calcium-modulator and cyclophilin-ligand interactor), a member of the tumor necrosis factor-receptor superfamily.
|
16899196 |
2006 |