Journal
FEBS LETTERS
Volume 585, Issue 23, Pages 3710-3714Publisher
WILEY
DOI: 10.1016/j.febslet.2011.10.031
Keywords
Wiskott-Aldrich Syndrome; Cytoskeleton; Primary immunodeficiency disease; Autoimmunity
Funding
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- NIAMS
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Wiskott-Aldrich Syndrome (WAS) is a X-linked primary immunodeficiency disorder also marked by a very high (up to 70%) incidence of autoimmunity. Wiskott-Aldrich Syndrome arises from mutations in the Wiskott-Aldrich Syndrome protein (WASp), a cytoplasmic protein that links signaling by cell surface receptors such as the T-cell receptor and integrins to actin polymerization. WASp promotes the functions of multiple cell types that support immune responses, but also is important for the function of regulatory T cells and in TCR-induced apoptosis, two negative mechanisms of immune regulation that maintain peripheral immune tolerance. Here we review the nature of immune defects and autoimmunity in WAS and WASp deficient mice and discuss how this single gene defect can simultaneously impair immune responses to pathogens and promote autoimmunity. The myriad cellular immune defects found in WAS make this Mendelian syndrome an interesting model for the study of more complex immune diseases that arise from the interplay of environmental and multiple genetic risk factors. (C) 2011 Published by Elsevier B.V. on behalf of the Federation of European Biochemical Societies.
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