Disease Information for Wiskott-Aldrich syndrome (Clinical Manifestations)

Aldrich, Aldrich syndrome, Eczema thrombocytopenia immunodeficiency syndrome, eczema thromocytopenia diarrhea syndrome, eczema thromocytopenia immunodeficiency syndrome, eczema thromocytopenia syndrome, Eczema+thromb'paenia+imundefic, familial eczema thrombocytopenia, IMD2, IMMUNODEFICIENCY 2, immunodeficiency thrombocytopenia and eczema, IMMUNODEFICIENCY WITH ECZEMA AND THROMBOCYTOPENIA, Immunodeficiency with thrombocytopenia and eczema, Syndrome Aldrich, Syndrome Wiskott Aldrich, thrombocytopenia eczema immunodeficiency, WAS, WAS Wiskott Aldrich syndrome, Wiskott Aldrich, Wiskott Aldrich syndrome, Wiskott Aldrich syndrome (disorder), Wiskott syndrome

Wiskott-Aldrich Syndrome (WAS): An X-linked recessive disorder of male infants, characterized by eczema, thrombocytopenia, and recurrent infection; The first manifestations often are hemorrhagic (usually bloody diarrhea), followed by development of recurrent respiratory infections; Malignancy (especially lymphoma and acute lymphoblastic leukemia) is common in survivors > 10 yr old; The characteristic immunologic defects include poor Ab responses to polysaccharide Ags, cutaneous anergy, partial T cell immunodeficiency, elevated levels of IgE and IgA, low levels of IgM, and hypercatabolism of IgG but normal IgG levels; Because of the combined deficiency in both B and T cell function, infections occur with pyogenic bacteria, viruses, fungi, and P. carinii; Hematologically, these patients have small platelets and increased splenic destruction of platelets; accordingly, splenectomy may alleviate the thrombocytopenia; Treatment consists of splenectomy, continuous antibiotics, immune globulin given IV (not IM, because of risk of hemorrhage), and bone marrow transplantation; [MERCK MANUAL ONLINE 2005]-----------------Wiskott Aldrich Syndrome; Aldrich Syndrome; Eczema-Thrombocytopenia-Immunodeficiency Syndrome; IMD2; Immunodeficiency, Wiskott-Aldrich Type; Immunodeficiency-2; WAS; Wiskott-Aldrich Syndrome (WAS) is a rare inherited disorder that may be characterized by recurrent infections due to defects in the immune system (ie, partial defects in T lymphocyte and B lymphocyte systems [combined immunodeficiency]; abnormal bleeding caused by a deficiency in circulating blood platelets (thrombocytopenia); a high incidence of "autoimmune-like"symptoms; and the presence of scaling, itchy skin rashes (eczema) that may be mild in some affected individuals and severe in others; The range and severity of symptoms and physical features associated with the disorder may vary greatly from case to case; Because Wiskott-Aldrich Syndrome is inherited as an X-linked recessive genetic trait, the disorder is usually fully expressed in males only;<br>

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