Normal Sialophorine (CD43) Expression in a Thrombocytopenic and Immunodeficient Woman Carrier of Wiskott—Aldrich Syndrome

We report on a 24-year-old thrombocytopenic woman with a history of recurrent infections, skin and mucosal bleeding, and a member of a family with the Wiskott—Aldrich syndrome. Hemorrhagic complications occurred at age 20, when mild peripheral thrombocyto penia (38-52 g/L) was confirmed. Four male family mem bers died of infectious complications at ages ranging from 6 months to 3 years. At the time of the study, she was free of infection. Physical examination exhibited ecchymoses of skin of the legs only, and her laboratory investigations demonstrated a lack of secondary waves of platelet ag gregation with adenosine diphosphate (ADP) and prolon gation of the lag phase after collagen stimulation. Inten sities of aggregation induced by ADP, collagen, and thrombin were decreased. Patient's plasma aggregating activity was diminished. Abnormal intraplatelet malo nylodialdehyde formation was also found. Assessment of the platelet volume distribution demonstrated the pres ence of normal-size population. Examinat...