Very early-onset inflammatory bowel disease and immunodeficiency / 中华实用儿科临床杂志

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.