Abstract

Wiskott-Aldrich syndrome (WAS) is an X-linked autosomal recessive disorder characterized by a triad of (1) severe immune dysregulation resulting in recurrent infections, autoimmune disease, and lymphoid malignancies, (2) thrombocytopenia with small platelets, and (3) eczema. WAS is caused by a mutation in the WAS gene on the short arm of the X chromosome. Mutations in the WAS gene can also cause X-linked thrombocytopenia (XLT), a less severe form of WAS, and X-linked neutropenia (XLN). Management for WAS initially is supportive. The only curative option is hematopoietic stem cell transplant. Gene therapy as a curative option is currently under investigation.

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