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DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction DISEASE MARKERS McGhee, S. A., Chatila, T. A. 2010; 29 (3-4): 151-156

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.

View details for DOI 10.3233/DMA-2010-0740

View details for Web of Science ID 000285458400005

View details for PubMedID 21178274