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

The result's identifiers

  • 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>

Alternative languages

  • 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

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FA - Cardiovascular diseases including cardio-surgery

  • OECD FORD branch

Result continuities

  • 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)

Others

  • Publication year

    2012

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Human Immunology

  • ISSN

    0198-8859

  • e-ISSN

  • 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