Epidemiological Screening of IL10RA Mutation Rate in China

Overview

The presentation of IBD in early childhood is uncommon and the monogenetic defects, especially IL-10 signaling pathway play a key role in very early onset inflammatory bowel disease (VEO-IBD). IL-10 or IL-10R deficiency associated VEO-IBD is considered a rare disorder. To date, there were about 60 cases were reported all over the word. But in our Chinese VEO-IBD Collaboration Group, 42 patients with biallelic mutations affecting IL10R genes were identified from 93 VEO-IBD patients, and the mutation sites are highly concentrated, including 83.9% (26/31) with p.R101W and 55% p.T179T (17/31) mutation, and the proportion of patients from Henan( A province of China) is higher. So we speculate that IL-10RA mutation may not be very rare, and the frequency of heterozygote subjects might be higher than suspected.

1. The mutation rates of p.R101W and p.T179T IL10RA in Henan newborn. 2. Is there any clinical symptoms in children with IL-10RA-deficient? and the onset of the symptoms. 3. Whether the intestinal permeability is normal in heterozygote subjects.

Conditions

Eligibility

Locations (1)

Outcomes