ABSENCE OF EXPRESSION OF THE WISKOTT-ALDRICH-SYNDROME PROTEIN IN PERIPHERAL-BLOOD CELLS OF WISKOTT-ALDRICH-SYNDROME PATIENTS

Wiskott-Aldrich syndrome (WAS) is am X-linked primary immunodeficiency that is usually associated with thrombocytopenia and eczema. The very variable phenotype of WAS results from defects in the WAS protein (WA SP), the function of which is not well understood. In many cases causa tive mutations have now been identified he the WAS gene. Attempts leav e been made to correlate the nature of the mutations with the severity of the disease; In this study we investigated mutations he 13 patient s with WASP and analyzed the expression of WASP in patient blood sampl es by immunoblot analysis. We found that despite extensive variation i n the nature of the mutations in patients with severe WAS symptoms, no ne express the protein. However, in 13 patient with a mild clinical ph enotype WASP expression was detected. Such am analysis could be used a s an initial screening procedure for the diagnosis of WAS prior to gen otypic analysis (C) 1998 Academic Press.