ICOS deficiency in patients with common variable immunodeficiency

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F04%3A00030933" target="_blank" >RIV/00216224:14110/04:00030933 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
ICOS deficiency in patients with common variable immunodeficiency
Original language description
Common variable immunodeficiency (CVID) is the most frequent clinically significant primary antibody deficiency in man, predisposing to recurrent bacterial infections. Recently, we showed that the homozygous loss of the inducible costimulator (ICOS) on activated T cells may result in an adult onset form of CVID with autosomal recessive inheritance (AR-CVID). We screened 181 sporadic CVID patients and 13 CVID patients from nine families with AR-CVID for mutations in ICOS by genomic DNA sequencing. In theAR-CVID families, the genomic integrity of the ligand for ICOS (ICOS-L) was also evaluated. In two of the nine AR-CVID families, we identified five individuals with ICOS deficiency, carrying the identical large genomic deletion of ICOS as previously described. In the remaining seven AR-CVID families, we subsequently sequenced the coding region of the ICOS ligand but found no mutations. The incidence of ICOS deficiency among patients with CVID is less than 5%.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EC - Immunology
OECD FORD branch
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Publication year
2004
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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