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. 2004 Sep;137(3):584-8.
doi: 10.1111/j.1365-2249.2004.02581.x.

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

D Eastwood  1 , K C Gilmour, K Nistala, C Meaney, H Chapel, Z Sherrell, A D Webster, E G Davies, A Jones, H B Gaspar
Affiliations

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

D Eastwood et al. Clin Exp Immunol. 2004 Sep.

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.

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Figures

Fig. 1
Fig. 1
Analysis of SAP protein and cDNA expression in controls, CVID patients and UPN56. (a) SAP expression from PBMC lysates obtained from one control (C1) and three patients (UPN1-3), blotted with a human anti-SAP rabbit polyclonal antibody. Control and patient samples express a normal-sized SAP protein at 15 kDa. (b) cDNA from two controls (C1 and C2) and UPN56 was amplified using SAP-specific primers. The control sample shows two bands, a predominant species of 629 bp and a second smaller band of 574 bp. The SAP PCR products from UPN56 show altered mobility when compared to normal control PCR products. Marker bands (M) are shown on either side. (c) Quantitative analysis of SAP protein expression from a control (C1) and UPN56 shows markedly decreased SAP expression in the patient. Equal loading of protein by analysis of β-actin expression is seen in the lower panel.
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