早期発症型炎症性腸疾患と免疫不全【JST・京大機械翻訳】

Abstract

The etiology of inflammatory bowel disease(IBD) is complex and multifactorial.Recent genetic association studies within large IBD cohorts have identified 163 genetic loci.But these 163 loci in total explain 13.6% of Crohn′s disease and 7.5% of ulcerative colitis total disease variance.The classification defines very early-onset IBD as diagnosis before the age of 5 years old, and also before the age of 6 years old in some research.It is likely that genetic factors contribute more to the etiology of very early-onset IBD.Recently some cases have been reported, which have linked to very early-onset IBD, such as IL-10 and IL-10 receptor gene mutation, immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, X-linked lymphoproliferative syndrome, IL-21 deficiency, mevalonate kinase deficiency, and so on.And many of these diseases are classified as primary immunodeficiencies.This paper introduces these series of very early-onset IBD in brief. Key words: Very early-onset; Inflammatory bowel disease; Immunodeficiency