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Genetic and Rare Diseases Information Center (GARD)

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Wiskott Aldrich syndrome


Other Names for this Disease
  • Aldrich syndrome
  • Eczema thrombocytopenia immunodeficiency syndrome
  • Eczema-thrombocytopenia-immunodeficiency syndrome
  • IMD 2
  • Immunodeficiency 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Wiskott Aldrich syndrome (WAS) is a condition characterized by immunodeficiency and reduced ability to form blood clots. It primarily affects males. Signs and symptoms include easy bruising or bleeding due to a decrease in the number and size of platelets; susceptibility to infections, immune disorders and inflammatory disorders; and an increased risk for some cancers (such as lymphoma). Eczema is common in affected people. WAS is caused by mutations in the WAS gene and is inherited in an X-linked manner.[1] Treatment may depend on severity and symptoms in each person, but stem cell transplantation is the only known cure.[2]
Last updated: 4/10/2015

References

  1. Wiskott-Aldrich syndrome. Genetics Home Reference. February, 2013; http://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome.
  2. Alexandra H Filipovich, Judith Johnson, and Kejian Zhang. WAS-Related Disorders. GeneReviews. March 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1178/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Wiskott Aldrich syndrome. This website is maintained by the National Library of Medicine.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wiskott Aldrich syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Aldrich syndrome
  • Eczema thrombocytopenia immunodeficiency syndrome
  • Eczema-thrombocytopenia-immunodeficiency syndrome
  • IMD 2
  • Immunodeficiency 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.