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CARD15/NOD2 Mutations in Crohn's Disease


Address for correspondence: J-P. Hugot, M.D., Ph.D., INSERM Avenir U458, Hôpital Robert Debré, 48 Bd. Sérurier, 75019 Paris, France. Voice: 33-1-40-03-57-12; fax: 33-1-40-03-57-66.


Abstract: Inflammatory bowel diseases (IBDs) are complex genetic disorders characterized by a complex interplay between genetic and environmental risk factors. At least ten genes or anonymous loci have been proposed to play a role in IBD. Among them, the best studied is CARD15/NOD2, a gene coding for a protein involved in bacterial recognition by cells involved in innate immunity. Despite a large amount of work, a consensus model explaining the effect of Card 15/NoD2 mutations did not emerge, and the disease mechanisms are still subject to debate.