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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2010-01-01
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Series: | Disease Markers |
Online Access: | http://dx.doi.org/10.3233/DMA-2010-0740 |
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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 |
work_keys_str_mv |
AT seanamcghee dock8immunedeficiencyasamodelforprimarycytoskeletaldysfunction AT talalachatila dock8immunedeficiencyasamodelforprimarycytoskeletaldysfunction |
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