Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives

Appl Clin Genet. 2021 Aug 20;14:363-388. doi: 10.2147/TACG.S213920. eCollection 2021.

Abstract

Wiskott-Aldrich syndrome (WAS) is an uncommon X-linked combined-immunodeficiency disorder characterized by a triad of thrombocytopenia, eczema, and immunodeficiency. 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 autoimmunity in WAS is also included.

Keywords: bleeding; genetics; hematopoietic stem–cell transplant; malignancy; thrombocytopenia; vasculitis.

Publication types

  • Review