Wiskott-Aldrich syndrome

Clinical classification based on gene expression[13]Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464. http://bloodjournal.hematologylibrary.org/content/103/2/456.long http://www.ncbi.nlm.nih.gov/pubmed/12969986?tool=bestpractice.com

Severe WAS

• Severe clinical course.

• In the absence of curative bone marrow transplantation, this is associated with significant morbidity and mortality.

• Associated with mutations in the WAS gene resulting in absent protein product.

Attenuated WAS, also called X-linked thrombocytopenia

• Milder clinical course with good prognosis.

• Associated with mutations in the WAS gene resulting in reduced protein product.