Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome

Lymphocytes from three patients with the Wiskott-Aldrich syndrome were subjected to surface radioiodination and their 125I-labelled surface proteins were analysed by SDS-polyacrylamide gel electrophoresis and autoradiography. Autoradiographs demonstrated the absence in all three patients of an 125I-labelled protein, molecular weight of 115 000, that was present in normal individuals. In addition, one patient had an additional labelled protein, molecular weight 135 000, not found in normal individuals. The platelets from one patient were radioiodinated and the 125I-labelled membrane proteins were analysed. Glycoproteins Ia and Ib were reduced in amount and restricted in heterogeneity while glycoproteins IIb and IIIa were normal. These results suggest that the primary defect in the Wiskott-Aldrich syndrome may be abnormalities of (glyco)proteins normally present on the surface of lymphocytes and platelets.