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

Department of Haematology, Karol Marcinkowski University of Medical Sciences

Maria Zozuliska, Ph.D.

Department of Haematology, Karol Marcinkowski University of Medical Sciences

Adam Szczepanik, Ph.D

Department of Intensive Therapy, Karol Marcinkowski University of Medical Sciences

Grzegorz Dworacki, M.D.

Department of Immunopathology, Karol Marcinkowski University of Medical Sciences

Hanna Tilgner, Ph.D

Department of Clinical Pathomorphology, Karol Marcinkowski University of Medical Sciences, Pozna, Poland

Krystyna Zawilska, M.D.

Department of Haematology, Karol Marcinkowski University of Medical Sciences

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. Examination of isolated platelets by electron microscope showed a reduced num ber of dense bodies. The content of mepacrine-labeled platelet bodies in the fluorescent microscopy study was also diminished. Immunological investigations revealed a slight decrease in immunoglobulin G (IgG) serum concen tration and a low isohemagglutinin titer. Additionally, di minished percentages of T activated and total B cells were detected. Moreover, a slight increase of natural killer cells was revealed. Lymphocyte surface sialophorin (CD43) expression was normal. Polymorphonuclear cell (PMN) phagocytosis, chemotaxis, spontaneous migra tion, intravascular polymorphonuclear granulocyte aggre gate number, and Fc IgG receptor expression study all showed no abnormalities. However, a reduced bacteri cidal capacity of the PMN, reduced adhesion to albumin- covered plastic surfaces, and diminished resting super oxide/hydrogen peroxide production were found. Key Words: Wiskott-Aldrich syndrome carrier—Thrombo cytopenia—Immunodeficiency.

Clinical and Applied Thrombosis/Hemostasis, Vol. 2, No. 2, 137-141 (1996)
DOI: 10.1177/107602969600200209


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