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Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey 期刊论文

编号：

80336b8a-9d87-4950-8bf0-7cba1539d563
作者：

Huang, Zhiheng#^[1,2]Peng, Kaiyue#^[1,2]Li, Xiaoqin^[3];Zhao, Ruiqin^[4];You, Jieyu^[5];Cheng, Xiuyong^[6];Wang, Zhaoxia^[7];Wang, Ying^[8];Wu, Bingbing^[8];Wang, Huijun^[8];Zeng, Huasong^[9];Yu, Zhuowen^[1,2];Zheng, Cuifang^[1,2];Wang, Yuesheng^[3];Huang, Ying(黄瑛)*^[1,2]
语种：

英文
期刊：

INFLAMMATORY BOWEL DISEASES ISSN：1078-0998 2017 年 23 卷 4 期 (578 - 590) ; APR
收录：
关键词：

IL10 IL10 receptor very early onset inflammatory bowel diseases Chinese children
摘要：

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.537G>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 average Z 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.
推荐引用方式
GB/T 7714：

Huang Zhiheng,Peng Kaiyue,Li Xiaoqin, et al. Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey [J].INFLAMMATORY BOWEL DISEASES,2017,23(4):578-590.
APA：

Huang Zhiheng,Peng Kaiyue,Li Xiaoqin,Zhao Ruiqin,&Huang Ying.(2017).Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey .INFLAMMATORY BOWEL DISEASES,23(4):578-590.
MLA：

Huang Zhiheng, et al. "Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey" .INFLAMMATORY BOWEL DISEASES 23,4(2017):578-590.
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