|
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 |
We have replicated an association of CVID to p.C104R in TNFRSF13B and reported the second case of homozygous patient to date.
|
29867916 |
2018 |
|
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 hemizygosity does not recapitulate autoimmune features of CVID-associated C104R and A181E TNFRSF13B mutations, which likely encode dominant negative products, but instead reveals selective TACI haploinsufficiency at later stages of B-cell development.
|
26100089 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
Moreover, splenomegaly was associated with higher TACI expression, suggesting that perturbations of TACI function may underlie lymphoproliferation in CVID.
|
24809296 |
2014 |
|
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 |
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 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To summarize the recent advancements in common variable immune deficiency (CVID), specifically CVID genetics, clinical discoveries and treatment implications.
|
23026770 |
2012 |
|
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 |
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 |
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 |
Mutations in the gene encoding TACI (TNFRSF13B) were previously found to be associated with CVID.
|
22076597 |
2012 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data provide further evidence that TNFRSF13B/TACI alterations are not causative of CVID.
|
21547394 |
2011 |
|
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 |
Disease-modifying heterozygous amino acid substitutions in TACI are found in around ±10% of CVID patients.
|
21815909 |
2011 |
|
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 |
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 |
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 |
Of the 6 IgAD patients, 1 had a heterozygous TACI mutation (16.67%), while of the 3 unclassified patients, 1 had a monoallelic TACI mutation (33.3%), but his sibling who also had the same mutation had CVID.
|
20156508 |
2010 |
|
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 |
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 |
Remarkably, we did not find the TNFRSF13B mutation in the third index-child with CVID, despite his hypogammaglobulinaemia and decreased response to unconjugated pneumococcal vaccine.
|
19210517 |
2009 |
|
TNFRSF13B
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This represents the second CVID patient in the world with a complete absence of TACI expression.
|
19629655 |
2009 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Both biallelic and monoallelic TNFRSF13B mutations were identified in patients with common variable immunodeficiency disorders.
|
18981294 |
2009 |