Disease Markers

Disease Markers / 2010 / Article
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Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies

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Volume 29 |Article ID 380291 | https://doi.org/10.3233/DMA-2010-0738

Sung-Yun Pai, Chaekyun Kim, David A. Williams, "Rac GTPases in Human Diseases", Disease Markers, vol. 29, Article ID 380291, 11 pages, 2010. https://doi.org/10.3233/DMA-2010-0738

Rac GTPases in Human Diseases

Received14 Dec 2010
Accepted14 Dec 2010


Rho GTPases are members of the Ras superfamily of GTPases that regulate a wide variety of cellular functions. While Rho GTPase pathways have been implicated in various pathological conditions in humans, to date coding mutations in only the hematopoietic specific GTPase, RAC2, have been found to cause a human disease, a severe phagocytic immunodeficiency characterized by life-threatening infections in infancy. Interestingly, the phenotype was predicted by a mouse knock-out of RAC2 and resembles leukocyte adhesion deficiency (LAD). Here we review Rho GTPases with a specific focus on Rac GTPases. In particular, we discuss a new understanding of the unique and overlapping roles of Rac2 in blood cells that has developed since the generation of mice deficient in Rac1, Rac2 and Rac3 proteins. We propose that Rac2 mutations leading to disease be termed LAD type IV.

Copyright © 2010 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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