Disease Markers

Disease Markers / 2010 / Article
Special Issue

Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies

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Open Access

Volume 29 |Article ID 397291 | 6 pages | https://doi.org/10.3233/DMA-2010-0740

DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction

Received14 Dec 2010
Accepted14 Dec 2010

Abstract

DOCK8 deficiency is a newly described primary immune deficiency resulting in profound susceptibility to cutaneous viral infections, elevated IgE levels, and eosinophilia, but lacking in the skeletal manifestations commonly seen in hyper IgE syndrome, which it otherwise resembles. Although little is known about the DOCK8 protein, it resembles other atypical guanine exchange factors in the DOCK family, and is known to bind to CDC42. This suggests that a likely role for DOCK8 is in modulating signals that trigger cytoskeletal reorganization. As a result, DOCK8 may also be related to other immune deficiencies that involve the cytoskeleton and Rho GTPase signaling pathways, such as Wiskott-Aldrich syndrome and Rac2 deficiency.

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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