All of the following statement are true about wiskott Aldrich syndrome except
It is an autosomal recessive disorder
There is failure of aggregation of platelets in response to agonists
Thrombocytopenia
Patient present with eczema
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.
General anatomy