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Issue title: Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies
Article type: Research Article
Authors: Randall, Katrina L.; | Lambe, Teresa | Goodnow, Chris C. | Cornall, Richard J.
Affiliations: John Curtin School of Medical Research, The Australian National University, Canberra ACT, Australia | Department of Immunology, The Canberra Hospital, Garran, ACT, Australia | Nuffield Department of Clinical Medicine, Oxford University, UK
Note: [] Corresponding author: Richard J. Cornall, Nuffield Department of Clinical Medicine, Oxford University, UK. Tel.: +44 1865 287790; Fax: +44 1865 287787; E-mail: [email protected]
Abstract: The processes that normally generate and maintain adaptive immunity and immunological memory are poorly understood, and yet of fundamental importance when infectious diseases place such a major economic and social burden on the world's health and agriculture systems. Defects in these mechanisms also underlie the many forms of human primary immunodeficiency. Identifying these mechanisms in a systematic way is therefore important if we are to develop better strategies for treating and preventing infection, inherited disease, transplant rejection and autoimmunity. In this review we describe a genome-wide screen in mice for the genes important for generating these adaptive responses, and describe two independent DOCK8 mutant mice strains identified by this screen. DOCK 8 was found to play an essential role in humoral immune responses and to be important in the proper formation of the B cell immunological synapse.
Keywords: DOCK8, germinal center, immunodeficiency, DOCK family, guanine exchange factor
DOI: 10.3233/DMA-2010-0739
Journal: Disease Markers, vol. 29, no. 3-4, pp. 141-150, 2010
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