|
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 |
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 |
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 |
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 |
In some patients with common variable immunodeficiency (CVID) and immunoglobulin (Ig) A deficiency (IgAD), tumor necrosis factor (TNF) family receptor transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI) gene mutations have been reported.
|
18204790 |
2008 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes.
|
17983875 |
2007 |
|
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 |
To summarize the recent advancements in common variable immune deficiency (CVID), specifically CVID genetics, clinical discoveries and treatment implications.
|
23026770 |
2012 |
|
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 |
We report the case of a man with CVID in association with a heterozygous TACI gene mutation (C104R) who had a highly unusual, invasive, polyclonal CD8+ T-cell lymphoproliferation resulting in massive hepatosplenomegaly and causing renal impairment because of infiltration.
|
16630947 |
2006 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The hypothesis that the CVID gene predisposes heterozygous female carriers to cancer may be evaluated more easily in the future when the genetic basis for CVID is better understood.
|
3957001 |
1986 |
|
TNFRSF13B
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in TNFRSF13B are also associated with CVID, whereas the other three genes are purely recessive.
|
17467261 |
2007 |
|
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 |
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 |
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 |
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 |
|
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 |