Disease Markers

Disease Markers / 2010 / Article
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Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies

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Volume 29 |Article ID 781523 | https://doi.org/10.3233/DMA-2010-0735

Michael P. Blundell, Austen Worth, Gerben Bouma, Adrian J. Thrasher, "The Wiskott-Aldrich Syndrome: The Actin Cytoskeleton and Immune Cell Function", Disease Markers, vol. 29, Article ID 781523, 19 pages, 2010. https://doi.org/10.3233/DMA-2010-0735

The Wiskott-Aldrich Syndrome: The Actin Cytoskeleton and Immune Cell Function

Received14 Dec 2010
Accepted14 Dec 2010


Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency characterised by immune dysregulation, microthrombocytopaenia, eczema and lymphoid malignancies. Mutations in the WAS gene can lead to distinct syndrome variations which largely, although not exclusively, depend upon the mutation. Premature termination and deletions abrogate Wiskott-Aldrich syndrome protein (WASp) expression and lead to severe disease (WAS). Missense mutations usually result in reduced protein expression and the phenotypically milder X-linked thrombocytopenia (XLT) or attenuated WAS [1-3]. More recently however novel activating mutations have been described that give rise to X-linked neutropenia (XLN), a third syndrome defined by neutropenia with variable myelodysplasia [4-6]. WASP is key in transducing signals from the cell surface to the actin cytoskeleton, and a lack of WASp results in cytoskeletal defects that compromise multiple aspects of normal cellular activity including proliferation, phagocytosis, immune synapse formation, adhesion and directed migration.

Copyright © 2010 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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