Wiskott - Aldrich syndrome

Wiskott -Aldrich Syndrome (WAS) is an X_linked disorder characterized by clinical triad of micro thrombocytopenia, eczema and recurrent infections. It was first described by in 1937 by Dr. Alfred Wiskott, a German Pediatrician who identified three brothers with low platelet counts (thrombocytopenia), bloody diarrohea, skin rash (eczema) and recurrent ear infections. All three subsequently died at an early age from their sisters did not have symptoms. Seventeen years later, by studying a large six-generation Dutch family that the disease was passed down from generation to generation in an X- linked recessive manner.1 The gene product, (WAS) is a 502 amino acid protein expressed within the cytoplasm of non- erythroid hematopoietic cells. More than 300 unique mutations in the WAS gene have been identified. Depending on the mutations within the WASP gene protein, there is wide variability of clinical disease. In one study of 154 patients with Wiskott- Aldrich Syndrome only 30% had the classic presentation with thrombocytopenia, small platelets, eczema and immuno deficiency. 80% had eczema, 20% had only hematologic abnormalities and 5% had only infectious manifestations. Auto immune disease is common and occurs in upto 40_ 70% of patients. There is also a significantly increased risk of lympho reticular malignancy (10_20%) such as lymphoma, leukemia and myelodysplasia.²