Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F12%3A00062189" target="_blank" >RIV/00216224:14110/12:00062189 - isvavai.cz</a>

Alternative codes found

RIV/00209775:_____/12:#0000237 RIV/00159816:_____/12:#0000819

Result on the web

<a href="http://dx.doi.org/10.1016/j.humimm.2012.07.342" target="_blank" >http://dx.doi.org/10.1016/j.humimm.2012.07.342</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.humimm.2012.07.342" target="_blank" >10.1016/j.humimm.2012.07.342</a>

Result language

angličtina

Original language name

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations

Original language description

Mutations in the TNFRSF13B gene, encoding TACI, have been found in common variable immunodefi- ciency (CVID) and selective IgA deficient (IgAD) patients, but only the association with CVID seems to be significant. In this study, Czech CVID, IgAD and primary hypo/dysgammaglobulinemic (HG/DG) patients were screened for all TNFRSF13B sequence variants. The TNFRSF13B gene was mutated in 4/70 CVID patients (5.7%), 9/161 IgAD patients (5.6%), 1/17 HG/DG patient (5.9%) and none of 195 controls. Eight differentmutations were detected, including the most frequent p.C104R and p.A181E mutations as well as 1 novel missense mutation, p.R189K. A significant association of TNFRSF13B gene mutations was observed in both CVID (p = 0.01) and IgAD (p = 0.002) Czech patients. However, when combined with all published data, only the association with CVID remained significant compared with the controls (9.9% vs. 3.2%, p &lt; 10^6), while statistical significance disappeared for IgAD (5.7% vs. 3.2%, p = 0.14

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FA - Cardiovascular diseases including cardio-surgery

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Human Immunology

ISSN

0198-8859

e-ISSN

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Volume of the periodical

73

Issue of the periodical within the volume

11

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

1147-1154

UT code for WoS article

000310717500014

EID of the result in the Scopus database

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