All of the following statement are true about wiskott Aldrich syndrome except: (A) It is an autosomal recessive disorder, (B) There is failure of aggregation of platelets in response to agonists, (C) Thrombocytopenia, (D) Patient present with eczema
Answer is A. Ref Robbins 9/e p242;218 Wiskott-Aldrich Syndrome Wiskott-Aldrich syndrome is an X-linked recessive disease characterized by thrombocytopenia, eczema, and a marked vul- nerability to recurrent infection, ending in early death; the only treatment is bone marrow transplantation. This is a curious syndrome in that the clinical presentation and immunologic deficits are difficult to explain on the basis of the known underlying genetic defect. The thymus is ini- tially normal, but there is progressive age-related depletion of T lymphocytes in the peripheral blood and lymph nodes, with concurrent loss of cellular immunity. Additionally, patients do not make effective antibody responses to poly- saccharide antigens, and are therefore paicularly suscep- tible to infections with encapsulated, pyogenic bacteria. Affected patients also are prone to the development of malignant lymphomas. The responsible gene encodes a protein (Wiskott-Aldrich syndrome protein) that links several membrane receptors to the cytoskeleton. Although the mechanism is not known, a defect in this protein could result in abnormal cellular morphology (including platelet shape changes) or defective cytoskeleton-dependent acti- vation signals in lymphocytes and other leukocytes, with abnormal cell-cell adhesions and leukocyte migration.