Wiskott-Aldrich Syndrome, X-linked (WAS)

Pathogenic variants in the gene WAS cause Wiskott-Aldrich syndrome, which is inherited in an X-linked manner. Wiskott-Aldrich syndrome typically presents during infancy. Common clinical manifestations include thrombocytopenia, eczema, recurrent bacterial and viral infections, the risk of autoimmune disorders, and lymphoma. Although severe life-threatening infections, bleeding, autoimmune diseases, and malignancies have been commonly reported, life expectancy is not significantly affected with careful management of symptoms and infections.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):