Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.

Abstract:

:The molecular basis of common variable immunodeficiency (CVID) is undefined, and diagnosis requires exclusion of other diseases including X-linked lymphoproliferative disease (XLP). This rare disorder of immunedysregulation presents typically after Epstein-Barr virus infection and results from defects in the SAP (SLAM associated protein) gene. SAP mutations have been found in a few patients diagnosed previously as CVID, suggesting that XLP may mimic CVID, but no large-scale analysis of CVID patients has been undertaken. We therefore analysed 60 male CVID and hypogammaglobulinaemic patients for abnormalities in SAP protein expression and for mutations in the SAP gene. In this study only one individual, who was found later to have an X-linked family history, was found to have a genomic mutation leading to abnormal SAP cDNA and protein expression. These results demonstrate that SAP defects are rarely observed in CVID patients. We suggest that routine screening of SAP may only be necessary in patients with other suggestive clinical features.

journal_name

Clin Exp Immunol

authors

Eastwood D,Gilmour KC,Nistala K,Meaney C,Chapel H,Sherrell Z,Webster AD,Davies EG,Jones A,Gaspar HB

doi

10.1111/j.1365-2249.2004.02581.x

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

584-8

issue

3

eissn

0009-9104

issn

1365-2249

pii

CEI2581

journal_volume

137

pub_type

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