Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

WAS related disorders


Synonyms of WAS related disorders
  • WAS
  • Wiskott Aldrich syndrome
  • X-linked congenital neutropenia
  • X-linked thrombocytopenia

Disorder Subdivisions



    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
    • American Academy of Allergy, Asthma and Immunology
      611 East Wells Street
      Milwaukee WI 53202
      Phone #: 414-272-6071
      800 #: 800-822-2762
      e-mail: info@aaaai.org
      Home page: http://www.aaaai.org
    • Center for International Blood and Marrow Transplant Research
      Medical College of Wisconsin
      Milwaukee WI 53226
      Phone #: 414-456-8325
      800 #: --
      e-mail: mnugent@hpi.mcw.edu
      Home page: http://www.ibmtr.org;
    • European Society for Immunodeficiencies (ESID)
      c/o Dr. Esther de Vries
      Hertogenbosch None 5200 ME's
      Phone #: +31- 73--6992965
      800 #: N/A
      e-mail: info@esid.org
      Home page: http://www.esid.org
    • Immune Deficiency Foundation
      40 West Chesapeake Avenue
      Towson MD 21204
      Phone #: 410-321-6647
      800 #: 800-296-4433
      e-mail: idf@primaryimmune.org
      Home page: http://www.primaryimmune.org
    • International Patient Organization for Primary Immunodeficiencies
      Firside
      Cornwall None PL11 3LE
      Phone #: 44 -150-3 250 668
      800 #: --
      e-mail: info@ipopi.org
      Home page: http://www.ipopi.org/
    • Jeffrey Modell Foundation
      747 Third Ave
      New York NY 10017
      Phone #: 212-819-0200
      800 #: 866-469-6474
      e-mail: info@jmfworld.org
      Home page: http://www.info4pi.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • NIH/National Heart, Lung and Blood Institute Information Center
      P.O. Box 30105
      Bethesda MD 20824-0105
      Phone #: 301-592-8573
      800 #: --
      e-mail: nhlbiinfo@rover.nhlbi.nih.gov
      Home page: N/A
    • NIH/National Institute of Allergy and Infectious Diseases
      6610 Rockledge Drive
      Bethesda MD 20892-6612
      Phone #: 301-496-5717
      800 #: --
      e-mail: N/A
      Home page: http://www.niaid.nih.gov/
    • National Bone Marrow Transplant Link
      20411 W. 12 Mile Rd
      Southfield MI 48076
      Phone #: 248-358-1886
      800 #: 800-546-5268
      e-mail: info@nbmtlink.org
      Home page: http://www.nbmtlink.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html