Gene: TNFRSF13B ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation 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
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation 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
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE Moreover, a patient with CVID was heterozygous in the common C104R mutation (6.25%). 21547394

2011
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE The contribution of the C104R mutation to the B-cell defects observed in patients with common variable immunodeficiency therefore remains unclear. 21458042

2011
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE These associations indicate that C104R heterozygosity increases the risk for common variable immunodeficiency disorders and influences clinical presentation. 18981294

2009
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE We investigated a family with CVID and identified the heterozygous C104R TNFRSF13B mutation in two of the three index-children with CVID, a mother with selective immunoglobulin A deficiency, a mother with recurrent infections and a healthy grandfather. 19210517

2009
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE The two most common TACI mutants associated with CVID--C104R and A181E--are primarily found as heterozygous mutations suggesting that they either cause haploinsufficiency or exert a dominant negative effect. 18978466

2008
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation 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
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation 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
dbSNP: rs34557412
rs34557412
TNFRSF13B
0.100 GeneticVariation BEFREE Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. 16007087

2005
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation 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
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation BEFREE Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. 20156508

2010
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation BEFREE The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. 19605846

2009
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation BEFREE The two most common TACI mutants associated with CVID--C104R and A181E--are primarily found as heterozygous mutations suggesting that they either cause haploinsufficiency or exert a dominant negative effect. 18978466

2008
dbSNP: rs72553883
rs72553883
TNFRSF13B
0.050 GeneticVariation BEFREE Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. 16007087

2005
dbSNP: rs35062843
rs35062843
TNFRSF13B
0.010 GeneticVariation BEFREE The silent mutation p.P97P was shown to be associated significantly with CVID compared with the controls in both Czech patients (allele frequency 4.3% vs. 0.2%, p=0.01) and in connection with the published data (5.1% vs. 1.8%, p=0.003). 22884984

2012
dbSNP: rs751216929
rs751216929
TNFRSF13B
0.010 GeneticVariation BEFREE In addition, we found the previously recognized C104R and C172Y mutations in a heterozygous form in two patients with CVID and one, novel, heterozygous P42T mutation. 19629655

2009