Article
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
Human molecular genetics - 1 Feb 2010
Kong Xiao-Fei, Vogt Guillaume, Chapgier Ariane, Lamaze Christophe, Bustamante Jacinta, Prando Carolina, Fortin Anny, Puel Anne, Feinberg Jacqueline, Zhang Xin-Xin, Gonnord Pauline, Pihkala-Saarinen Ulla M, Arola Mikko, Moilanen Petra, Abel Laurent, Korppi Matti, Boisson-Dupuis Stéphanie, Casanova Jean-Laurent
Abstract excerpt
IFN-gammaR1 deficiency is a genetic etiology of Mendelian susceptibility to mycobacterial diseases, and includes two forms of complete recessive deficiency, with or without cell surface expression, and two forms of partial deficiency, dominant or recessive. We report here a novel form of partial and recessive Interferon gamma receptor 1 (IFN-gammaR1) deficiency, which is almost as severe as complete deficiency....
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