Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.R117H
Back to variants list

IL10RA

NM_001558.4:p.R117H

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan.

Tomomasa D et al.

Journal of Clinical Immunology, 2024

Characteristics of the gut microbiota and the effect of Bifidobacterium in very early-onset inflammatory bowel disease patients with IL10RA mutations.

Xu X et al.

Frontiers in Microbiology, 2024

Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

36370291 (PubMed )
Supplement: 10875_2022_1366_MOESM10_ESM.xlsx › Sheet1

The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.

Sharifinejad N et al.

Clinical and Experimental Immunology, 2022

Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.

Su W et al.

World Journal of Gastroenterology, 2021

Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.

Sasahara Y et al.

Frontiers in Immunology, 2021

Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.

Uchida T et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.

Zheng C et al.

Inflammatory Bowel Diseases, 2019

Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.

Lv H et al.

Hereditas, 2019

[Interleukin-10 receptor gene mutations induced very early onset inflammatory bowel disease in 6 infants].

Wang FP et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018

Study of disease phenotype and its association with prognosis of paediatric inflammatory bowel disease in China.

Wang XQ et al.

Bmc Pediatrics, 2018

Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.

Fang YH et al.

World Journal of Gastroenterology, 2018

Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).

Al-Abbasi FA et al.

Frontiers in Genetics, 2018

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

Huang Z et al.

Inflammatory Bowel Diseases, 2017

Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study.

Suzuki T et al.

Journal of Clinical Immunology, 2017

Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease.

Xiao Y et al.

World Journal of Gastroenterology, 2016

Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.

Shim JO et al.

Journal of Human Genetics, 2014

Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans.

Shouval DS et al.

Advances in Immunology, 2014

IL-10 in humans: lessons from the gut, IL-10/IL-10 receptor deficiencies, and IL-10 polymorphisms.

Engelhardt KR et al.

Current Topics in Microbiology and Immunology, 2014

Interleukin-10 receptor mutations in children with neonatal-onset Crohn's disease and intractable ulcerating enterocolitis.

Shim JO et al.

European Journal of Gastroenterology & Hepatology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."