Wiskott Aldrich syndrome
Other Names for this Disease
- Eczema thrombocytopenia immunodeficiency syndrome
- Immunodeficiency 2
- IMD 2
- Aldrich syndrome
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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. Treatment may depend on severity and symptoms in each person, but stem cell transplantation is the only known cure.Wiskott Aldrich syndrome (WAS) is a condition characterized by
Last updated: 4/10/2015
- Wiskott-Aldrich syndrome. Genetics Home Reference. February, 2013; http://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome.
- Alexandra H Filipovich, Judith Johnson, and Kejian Zhang. WAS-Related Disorders. GeneReviews. March 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1178/.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.