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WAS Related Disorders

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to 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.

Synonyms of WAS Related Disorders

  • WAS
  • Wiskott Aldrich syndrome
  • X-linked congenital neutropenia
  • X-linked thrombocytopenia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Organizations related to WAS Related Disorders

(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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