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: [email protected]
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
