Autoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives

Abstract

Murugan Sudhakar, Rashmi Rikhi, Sathish Kumar Loganathan, Deepti Suri, Surjit Singh Department of Pediatrics, Advanced Pediatrics Center, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaCorrespondence: Deepti SuriDepartment of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, IndiaEmail [email protected]: 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: thrombocytopenia, vasculitis, genetics, hematopoietic stem–cell transplant, bleeding, malignancy