NORD gratefully acknowledges Alexandra H Filipovich, MD, Professor of Pediatric Hematology/Oncology, Immunodeficiency and Histiocytosis Program, and Judith Johnson, MS, CGC, Genetic Counselor, Diagnostic Center for Heritable Immunodeficiencies at the Cincinnati Children's Hospital Medical Center, for assistance in the preparation of this report.
The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The WAS gene abnormality results in a deficiency in the WASP protein that leads to a low platelet count (thrombocytopenia). WAS-related disorders usually present in infancy and are characterized by bloody diarrhea, recurrent infections, scaling, itchy, skin rashes (eczema), and the appearance of small purple spots on the skin (petechia). The development of Pneumocystis carinii pneumonia (PCP) and intracranial bleeding are possible early, life-threatening complications. Later potential complications include destruction of red blood cells (hemolytic anemia), arthritis, vasculitis and kidney and liver damage. Affected individuals have an increased risk of developing lymphomas, especially after exposure to Epstein-Barr virus. WAS-related disorders are extremely variable, even in individuals in the same family.
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., immune deficiency, thrombocytopenia, eczema, autoimmune-like symptoms, etc.].)
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