Open AccessAutoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives
Author(s) -
Murugan Sudhakar,
Rashmi Rikhi,
Sathish Kumar Loganathan,
Deepti Suri,
Surjit Singh
Publication year - 2021
Publication title -
application of clinical genetics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.879
H-Index - 32
ISSN - 1178-704X
DOI - 10.2147/tacg.s213920
Subject(s) - wiskott–aldrich syndrome , autoimmunity , malignancy , medicine , immunodeficiency , immunology , hematopoietic stem cell transplantation , transplantation , immune system , pathology , genetics , biology , gene
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.