Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey. Issue 4 (April 2017)

• Record Type: Journal Article
• Authors: Huang, Zhiheng; Peng, Kaiyue; Li, Xiaoqin; Zhao, Ruiqin; You, Jieyu; Cheng, Xiuyong; Wang, Zhaoxia; Wang, Ying; Wu, Bingbing; Wang, Huijun; Zeng, Huasong; Yu, Zhuowen; Zheng, Cuifang; Wang, Yuesheng; Huang, Ying
• Is Part Of: Inflammatory bowel diseases. Volume 23:Issue 4(2017)
• Publication Date: 2017-04
• Subjects: IL10 -- IL10 receptor -- very early onset inflammatory bowel diseases -- Chinese children; Inflammatory bowel diseases -- Periodicals; Colitis, Ulcerative -- Periodicals; Crohn Disease -- Periodicals; Inflammatory Bowel Diseases -- Periodicals; 616.344
• DOI: 10.1097/MIB.0000000000001058
• Languages: English
• ISSNs: 1078-0998

Abstract

Abstract : Background: Interleukin-10 (IL10) signaling plays an important role in the pathogenesis of very early onset inflammatory bowel disease (VEO-IBD) in children. However, little is known about the role of the IL10 axis in children with VEO-IBD in China. Methods: The Chinese VEO-IBD Collaboration Group was created to collect clinical and genetic data from patients deficient in IL10 and the IL10 receptor. High-throughput sequencing was performed to identify mutations in these genes. Results: We identified 32 compound heterozygous mutations and 9 homozygous mutations in IL10 receptor subunit alpha and 1 homozygous mutation in IL10 receptor subunit beta. Among these mutations, 10 novel mutations were identified, and 6 pathogenic mutations had been previously described. In patients with IL10 receptor subunit alpha mutations, c.301C>T (p.R101RW) and c.537 G>A (p.T179T) were the most common mutations. For 88.1% of the patients, the initial symptom was diarrhea, with a time of onset of 10.4 ± 8.0 days. Oral ulcers were the first symptom in 23.8% of the patients, with a time of onset of 9.7 ± 2.8 days. Extraintestinal manifestations included perianal abscesses (22/42), perianal fistulas (23/42), oral ulcers (20/42), and recurrent eczema (15/42). Twelve patients underwent enterostomy. These patients also had lower averageZ scores in height-for-age and weight-for-age. Various treatment strategies were used, including fecal microbiota transplantation; however, only hematopoietic stem cell transplantation was efficacious. Conclusions: This study identified genotypes and phenotypes of Chinese VEO-IBD infants with IL10 receptor mutations. Our study expands the current knowledge on the involvement of the IL10 axis in patients with VEO-IBD. Abstract : Published online 6 March 2017Supplemental Digital Content is Available in the Text.