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    WAS Related Disorders

    Important
    It is possible that the main title of the report WAS Related Disorders is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    Disorder Subdivisions

    • None

    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.

    Resources

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    Immune Deficiency Foundation
    40 W. Chesapeake Avenue
    Suite 308
    Towson, MD 21204
    Tel: (410)321-6647
    Fax: (410)321-9165
    Tel: (800)296-4433
    Email: idf@primaryimmune.org
    Internet: http://www.primaryimmune.org

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    NIH/National Heart, Lung and Blood Institute
    P.O. Box 30105
    Bethesda, MD 20892-0105
    Tel: (301)592-8573
    Fax: (301)251-1223
    Email: nhlbiinfo@rover.nhlbi.nih.gov
    Internet: http://www.nhlbi.nih.gov/

    NIH/National Institute of Allergy and Infectious Diseases
    Office of Communications and Government Relations
    6610 Rockledge Drive, MSC 6612
    Bethesda, MD 20892-6612
    Tel: (301)496-5717
    Fax: (301)402-3573
    Tel: (866)284-4107
    TDD: (800)877-8339
    Email: ocpostoffice@niaid.nih.gov
    Internet: http://www.niaid.nih.gov/

    Center for International Blood and Marrow Transplant Research
    Froedtert and the Medical College of Wisconsin Clinical Cancer Center
    9200 W. Wisconsin Avenue
    Milwaukee, WI 53226
    Tel: (414)805-0700
    Fax: (414)805-0714
    Email: contactus@cibmtr.org
    Internet: http://www.cibmtr.org/

    American Academy of Allergy, Asthma and Immunology
    611 East Wells Street
    Milwaukee, WI 53202
    Tel: (414)272-6071
    Fax: (414)276-3349
    Tel: (800)822-2762
    Email: info@aaaai.org
    Internet: http://www.aaaai.org

    National Bone Marrow Transplant Link
    20411 W. 12 Mile Rd
    Suite 108
    Southfield, MI 48076
    Tel: (248)358-1886
    Fax: (248)358-1889
    Tel: (800)546-5268
    Email: info@nbmtlink.org
    Internet: http://www.nbmtlink.org

    International Patient Organization for Primary Immunodeficiencies
    Firside Main Road
    Downderry
    Cornwall, PL11 3LE
    United Kingdom
    Tel: 441503250668
    Fax: 441503250961
    Email: info@ipopi.org
    Internet: http://www.ipopi.org/

    Jeffrey Modell Foundation
    780 Third Avenue
    New York, NY 10017
    USA
    Tel: (212)819-0200
    Fax: (212)764-4180
    Tel: (866)469-6474
    Email: info@jmfworld.org
    Internet: http://www.info4pi.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    European Society for Immunodeficiencies
    1-3 rue de Chantepoulet
    Geneva, CH 1211
    Switzerland
    Tel: 410229080484
    Fax: 41229069140
    Email: esid@kenes.com
    Internet: http://www.esid.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 2/15/2008
    Copyright 1986, 1987, 1988, 1993, 1996, 1997, 1998, 1999, 2006, 2007, 2008 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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