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Primary Immune Deficiency Diseases (PIDDs)​

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Wiskott-Aldrich Syndrome (WAS)

diagram of WAS protein
Crystal structure of the WAS protein (ribbon diagram) Credit: Wikimedia Commons

People with WAS have problems with their B cells, T cells, and platelets (the blood cells that aid in clotting). This can result in prolonged episodes of bleeding, recurrent bacterial and fungal infections, and increased incidence of malignancies and autoimmune diseases.


WAS is an X-linked recessive disease caused by mutations in the gene that makes Wiskott-Aldrich Syndrome Protein (WASP).

Signs and Symptoms

Mutations in the WASP gene are different from person to person, and some mutations result in more severe disease than others. Classic symptoms of WAS include the following:

  • Reduced platelet counts that lead to small bruises or bleeding in the skin, bowels, and gums or prolonged nose bleeds
  • Upper respiratory tract infections such as sinusitis
  • Lower respiratory infections and pneumonia
  • Eczema

More severe forms of WAS can lead to the following:

  • Bloodstream infections, meningitis, and severe viral infections
  • Autoimmune-like symptoms, including blood vessel inflammation, anemia, and production of antibodies against the body’s own platelets
  • Lymphoma or leukemia


Blood tests will indicate low platelet counts in boys who show unusual bleeding or bruises; low platelet counts also can be determined using blood samples. Children with WAS fail to produce effective antibodies to bacteria and vaccines; skin tests can reveal abnormal T-cell function that leads to this failure.


Intravenous (through the vein) immunglobulin replacement therapy and iron supplements are given to children with WAS. Bone marrow transplant has also been shown to be effective.

Last Updated July 17, 2012

Last Reviewed October 15, 2010