|
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 |
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 |
Moreover, a patient with CVID was heterozygous in the common C104R mutation (6.25%).
|
21547394 |
2011 |
|
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 |
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 |
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 |
|
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 |
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 |
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 |
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 |