|
rs34557412
|
|
|
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 |
|
rs34557412
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These associations indicate that C104R heterozygosity increases the risk for common variable immunodeficiency disorders and influences clinical presentation.
|
18981294 |
2009 |
|
rs34557412
|
|
|
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 |
|
rs34557412
|
|
|
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 |
|
rs34557412
|
|
|
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 |
|
rs34557412
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, a patient with CVID was heterozygous in the common C104R mutation (6.25%).
|
21547394 |
2011 |
|
rs34557412
|
|
|
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 |
|
rs34557412
|
|
|
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 |
|
rs34557412
|
|
|
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 |
|
rs34557412
|
|
|
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 |
|
rs72553883
|
|
|
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 |
|
rs72553883
|
|
|
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 |
|
rs72553883
|
|
|
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 |
|
rs72553883
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function.
|
19605846 |
2009 |
|
rs72553883
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency.
|
20156508 |
2010 |
|
rs1275561861
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These observations could be explained by the increased frequencies of HLA-A*03-B*07 in C282Y homozygotes and in CVID and IgGSD, and by the common occurrence of putative CVID or IgGSD allele(s) on haplotypes bearing C282Y.
|
12850493 |
2004 |
|
rs1275561861
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We tabulated the phenotype frequencies of HLA-A*03 and the frequencies of common HLA haplotypes A*01-B*08, A*02-B*44, A*03-B*07, and A*03-B*14 in three groups of white adults: (1) 141 hemochromatosis probands with C282Y homozygosity; (2) 195 index cases with IgG subclass deficiency (IgGSD) or common variable immunodeficiency (CVID), disorders typically linked to Ch6p, and (3) 750 control subjects.
|
15607698 |
2005 |
|
rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These observations could be explained by the increased frequencies of HLA-A*03-B*07 in C282Y homozygotes and in CVID and IgGSD, and by the common occurrence of putative CVID or IgGSD allele(s) on haplotypes bearing C282Y.
|
12850493 |
2004 |
|
rs1800562
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We tabulated the phenotype frequencies of HLA-A*03 and the frequencies of common HLA haplotypes A*01-B*08, A*02-B*44, A*03-B*07, and A*03-B*14 in three groups of white adults: (1) 141 hemochromatosis probands with C282Y homozygosity; (2) 195 index cases with IgG subclass deficiency (IgGSD) or common variable immunodeficiency (CVID), disorders typically linked to Ch6p, and (3) 750 control subjects.
|
15607698 |
2005 |
|
rs2066844
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Arg702trp polymorphisms were significantly less frequent than wild-type (WT) (P = 0·038) among international CVID patients with splenomegaly.
|
20646002 |
2010 |
|
rs35062843
|
|
|
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 |
|
rs746054383
|
|
|
0.010 |
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 |
|
rs748910652
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe 2 unrelated CVID pedigrees with 4 cases of pathogenic stop gain variants (c.1903C > T) in the ankyrin repeat domain (ARD) of NF-κB2, leading to a premature truncation of the protein at p.Arg635Term (R635X).
|
30953794 |
2019 |
|
rs751216929
|
|
|
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 |
|
rs774837924
|
|
|
0.010 |
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 |