Article
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
The Journal of experimental medicine - 4 Aug 2008
Vogt Guillaume, Bustamante Jacinta, Chapgier Ariane, Feinberg Jacqueline, Boisson Dupuis Stephanie, Picard Capucine, Mahlaoui Nizar, Gineau Laure, Alcaïs Alexandre, Lamaze Christophe, Puck Jennifer M, de Saint Basile Geneviève, Khayat Claudia Djambas, Mikhael Raymond, Casanova Jean-Laurent
Abstract excerpt
Germline mutations may cause human disease by various mechanisms. Missense and other in-frame mutations may be deleterious because the mutant proteins are not correctly targeted, do not function correctly, or both. We studied a child with mycobacterial disease caused by homozygosity for a novel in-frame microinsertion in IFNGR2. In cells transfected with the mutant allele, most of the interferon gamma receptor 2...
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