title: DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction.
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.
authors.affiliation: Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
authors.forename: Sean A
authors.initials: SA
authors.lastname: McGhee
authors.forename: Talal A
authors.initials: TA
authors.lastname: Chatila
mesh_terms: D000818:Animals; D001402:B-Lymphocytes / Q000276:immunology; D003598:Cytoskeletal Proteins / Q000378:metabolism; D003599:Cytoskeleton / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D006801:Humans; D051379:Mice; D009154:Mutation; D011485:Protein Binding; D015398:Signal Transduction / Q000276:immunology; D014923:Wiskott-Aldrich Syndrome / Q000276:immunology / Q000378:metabolism* / Q000503:physiopathology; D051316:Wiskott-Aldrich Syndrome Protein / Q000378:metabolism*; D020764:cdc42 GTP-Binding Protein / Q000378:metabolism; D020744:rac GTP-Binding Proteins / Q000378:metabolism; D000097766:RAC2 GTP-Binding Protein
chemical_list: D003598:Cytoskeletal Proteins; D020662:Guanine Nucleotide Exchange Factors; D051316:Wiskott-Aldrich Syndrome Protein; D020764:cdc42 GTP-Binding Protein; D020744:rac GTP-Binding Proteins; D000097766:RAC2 GTP-Binding Protein; C545324:Dock8 protein, mouse