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Issue title: Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies
Article type: Research Article
Authors: McGhee, Sean A. | Chatila, Talal A.
Affiliations: Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Note: [] Corresponding author: Talal A. Chatila, MD, Division of Pediatric Immunology, MDCC 12-430, 10833 Le Conte Ave, Los Angeles, CA 90095-1752, USA. Tel.: +1 310 825 6481; E-mail: tchatila@mednet.ucla.edu
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.
Keywords: DOCK8, cytoskeleton, immune deficiency
DOI: 10.3233/DMA-2010-0740
Journal: Disease Markers, vol. 29, no. 3-4, pp. 151-156, 2010
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