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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.

Original publication

DOI

10.1111/j.1365-2249.2004.02581.x

Type

Journal article

Journal

Clin Exp Immunol

Publication Date

09/2004

Volume

137

Pages

584 - 588

Keywords

Adolescent, Adult, Aged, Carrier Proteins, Child, Child, Preschool, Common Variable Immunodeficiency, DNA, DNA, Complementary, Gene Expression, Genome, Humans, Immunoblotting, Intracellular Signaling Peptides and Proteins, Lymphoproliferative Disorders, Male, Middle Aged, Mutation, Sequence Analysis, DNA, Signaling Lymphocytic Activation Molecule Associated Protein