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

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

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)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Immune Deficiency Foundation
40 West Chesapeake Avenue
Suite 308
Towson, MD 21230
Tel: (410)321-6647
Fax: (410)321-9165
Tel: (800)296-4433
Email: idf@primaryimmune.org
Internet: http://www.primaryimmune.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

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

Center for International Blood and Marrow Transplant Research
Medical College of Wisconsin
8701 Watertown Plank Road
Milwaukee, WI 53226
Tel: (414)456-8325
Fax: (414)456-6530
Email: mnugent@hpi.mcw.edu
Internet: http://www.ibmtr.org; 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: 44 1503 250 668
Fax: 44 1503 250 668
Email: info@ipopi.org
Internet: http://www.ipopi.org/

Jeffrey Modell Foundation
747 Third Ave
34th Floor
New York, NY 10017
USA
Tel: 2128190200
Fax: 2127644180
Tel: 8664696474
Email: info@jmfworld.org
Internet: http://www.info4pi.org

European Society for Immunodeficiencies (ESID)
c/o Dr. Esther de Vries
Jeroen Bosch Hospital
Dept. Paediatrics
P.O. Box 90153
Hertogenbosch, 5200 ME's
Netherlands
Tel: +31 73-6992965
Fax: +31 73-6992948
Email: info@esid.org
Internet: http://www.esid.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

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 of Rare Disorders

Last Updated: February 15, 2008

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