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http://purl.uniprot.org/citations/28267044http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28267044http://www.w3.org/2000/01/rdf-schema#comment"

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 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."xsd:string
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http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Cheng X."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Huang Y."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Li X."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Huang Z."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Wang Y."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Yu Z."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Wang Z."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Wang H."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Zhao R."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Zheng C."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Wu B."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Zeng H."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"You J."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Wang Y.'"xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/author"Peng K."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/name"Inflamm Bowel Dis"xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/pages"578-590"xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/title"Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey."xsd:string
http://purl.uniprot.org/citations/28267044http://purl.uniprot.org/core/volume"23"xsd:string
http://purl.uniprot.org/citations/28267044http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/28267044
http://purl.uniprot.org/citations/28267044http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/28267044
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