WAS related disorders

Important
It is possible that the main title of the report WAS related disordersis not the name you expected.

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
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

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

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda
MD
20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
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
nhlbiinfo@rover.nhlbi.nih.govNIH/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
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
mnugent@hpi.mcw.edu
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
800: (800)822-2762
info@aaaai.org
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
800: (800)546-5268
info@nbmtlink.org
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
info@ipopi.org
http://www.ipopi.org/

Jeffrey Modell Foundation
747 Third Ave
34th Floor
New York
NY
10017
USA
Tel: (212)819-0200
Fax: (212)764-4180
800: (866)469-6474
info@jmfworld.org
http://www.info4pi.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

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
info@esid.org
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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