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Issue title: Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies
Article type: Research Article
Authors: Pai, Sung-Yun | Kim, Chaekyun | Williams, David A.
Affiliations: Division of Hematology/Oncology, Children's Hospital Boston, Dana-Farber Cancer Institute, and Harvard Stem Cell Institute, Harvard Medical School, USA | Inha University School of Medicine, Korea
Note: [] Corresponding author: David A. Williams M.D., Chief of the Division of Hematology/Oncology, Director of Translational Research for Children's Hospital Boston, Leland Fikes Professor of Pediatrics, Harvard Medical School, Children's Hospital Boston, 300 Longwood Ave, Karp 08125.3, Boston MA 02115, USA. Tel.: +1 617 919 2697; Fax: +1 617 730 0868; E-mail: DAWilliams@childrens.harvard.edu
Abstract: 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.
Keywords: Rho GTPases, Rac, neutrophils, leukocyte adhesion deficiency, RhoH, lymphocytes
DOI: 10.3233/DMA-2010-0738
Journal: Disease Markers, vol. 29, no. 3-4, pp. 177-187, 2010
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