|
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 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
These results suggest that TACI mutations can lead to CVID.
|
17917015 |
2007 |
|
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 |
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 |
LHGDN |
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.
|
17392797 |
2007 |
|
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 |
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 |
In fact, mutations in TACI, one of the three BLyS receptors, are associated with CVID.
|
16838132 |
2006 |
|
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 |
|
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 |