Autoimmunity in wiskott–aldrich syndrome: Updated perspectives

Abstract

Wiskott–Aldrich syndrome (WAS) is an uncommon X-linked combined-immu-nodeficiency disorder characterized by a triad of thrombocytopenia, eczema, and immuno-deficiency. Patients with WAS are also predisposed to autoimmunity and malignancy. Autoimmune manifestations have been reported in 26%–72% of patients with WAS. Autoimmunity is an independent predictor of poor prognosis and predisposes to malignancy. Development of autoimmunity is also an early pointer of the need for hematopoietic stem– cell transplantation. In this manuscript, we have collated the published data and present a narrative review on autoimmune manifestations in WAS. A summary of currently proposed immunopathogenic mechanisms and genetic variants associated with development of auto-immunity in WAS is also included.