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Wiskott Aldrich syndrome

Other Names for this Disease
  • Aldrich syndrome
  • Eczema thrombocytopenia immunodeficiency syndrome
  • IMD 2
  • Immunodeficiency 2
  • WAS
More Names
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Overview


Wiskott Aldrich syndrome is a condition that affects blood cells and cells of the immune system. It is seen almost exclusively in males.[1] The condition is characterized by a tendency to bleed easily, development of an intensely itchy, scaling skin rash (eczema), and severe recurrent infections.[2] Wiskott Aldrich syndrome is caused by mutations in the WAS gene, which is located on the X chromosome. The condition is inherited in an X-linked recessive pattern. [1] The leading treatment option for Wiskott Aldrich syndrome is bone marrow transplantation. Alternative treatments may include surgery to remove the spleen and other more conservative measures such as antibiotics, IVIG, and avoidance of foods which may cause allergic reactions.[2]


References

  1. Wiskott-Aldrich syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome. Accessed October 27, 2010.
  2. Primary Immunodeficiency. National Institute of Child Health and Human Development (NICHD). http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm. Accessed October 27, 2010.
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General Information

  • The American Society of Gene & Cell Therapy provides information on the treatment of immunodeficiency diseases.
  • The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic. 
  • Genetics Home Reference (GHR) contains information on Wiskott Aldrich syndrome. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Wiskott Aldrich syndrome. Click on the link to go to OMIM and review these resources.