DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction

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...

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Main Authors: Sean A. McGhee, Talal A. Chatila
Format: Article
Language:English
Published: Hindawi Limited 2010-01-01
Series:Disease Markers
Online Access:http://dx.doi.org/10.3233/DMA-2010-0740
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spelling doaj-56ff96d5b6564fc6a55193763ead54c52020-11-25T00:36:35ZengHindawi LimitedDisease Markers0278-02401875-86302010-01-01293-415115610.3233/DMA-2010-0740DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal DysfunctionSean A. McGhee0Talal A. Chatila1Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USADepartment of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USADOCK8 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.http://dx.doi.org/10.3233/DMA-2010-0740
collection DOAJ
language English
format Article
sources DOAJ
author Sean A. McGhee
Talal A. Chatila
spellingShingle Sean A. McGhee
Talal A. Chatila
DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction
Disease Markers
author_facet Sean A. McGhee
Talal A. Chatila
author_sort Sean A. McGhee
title DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction
title_short DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction
title_full DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction
title_fullStr DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction
title_full_unstemmed DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction
title_sort dock8 immune deficiency as a model for primary cytoskeletal dysfunction
publisher Hindawi Limited
series Disease Markers
issn 0278-0240
1875-8630
publishDate 2010-01-01
description 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.
url http://dx.doi.org/10.3233/DMA-2010-0740
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