|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype.
|
31681716 |
2019 |
|
TNFRSF13B
|
0.700 |
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 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that TACI mutations can lead to CVID.
|
17917015 |
2007 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified variants in CVID disease genes TNFRSF13B, TNFRSF13C, LRBA and NLRP12 and enrichment of variants in known and novel disease pathways.
|
26122175 |
2015 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study identifies a novel combined mutation in TNFRSF13B increasing the spectrum of TACI mutations associated with CVID.
|
22627058 |
2012 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In fact, mutations in TACI, one of the three BLyS receptors, are associated with CVID.
|
16838132 |
2006 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that TACI mutations can result in CVID and IgAD.
|
16007086 |
2005 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Continued exploration of the role of genetic variations in TACI in CVID populations has improved our understanding of possible pathogenic events.
|
20442656 |
2010 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, TACI mutations may favor CVID by altering B cell activation with coincident impairment of central B cell tolerance, whereas residual B cell responsiveness in patients with one, but not two, TACI mutations enables autoimmune complications.
|
24051380 |
2013 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
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 |
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 |
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 |
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 |
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 |