All are true about wiskott Aldrich syndrome except
Ref Robbins 9/e p242,8/e p235, Harrison 17/e p2060,Op ghai pediatric 6/e p326 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.
Bloody diarrhea during infancy
Low IgM and elevated IgA and IgE
Large size platelets
Atopic dermatitis
General anatomy