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 (WASP), the function of which is not well understood. In many cases causative mutations have now been identified he the WAS gene. Attempts leave been made to correlate the nature of the mutations with the severity of the disease; In this study we investigated mutations he 13 patients with WASP and analyzed the expression of WASP in patient blood samples by immunoblot analysis. We found that despite extensive variation in the nature of the mutations in patients with severe WAS symptoms, none express the protein. However, in 13 patient with a mild clinical phenotype WASP expression was detected. Such am analysis could be used as an initial screening procedure for the diagnosis of WAS prior to genotypic analysis (C) 1998 Academic Press.