ICOS deficiency in patients with common variable immunodeficiency

Kód výsledku v 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>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

ICOS deficiency in patients with common variable immunodeficiency

Popis výsledku v původním jazyce

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%.

Název v anglickém jazyce

ICOS deficiency in patients with common variable immunodeficiency

Popis výsledku anglicky

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%.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EC - Imunologie

OECD FORD obor

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Projekt

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Návaznosti

S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2004

Kód důvěrnosti údajů

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

Název periodika

Clin Immunol

ISSN

1521-6616

e-ISSN

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Svazek periodika

113

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

SE - Švédské království

Počet stran výsledku

8

Strana od-do

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Kód UT WoS článku

000224975700004

EID výsledku v databázi Scopus

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