Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.R165*
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IL10RA

NM_001558.4:p.R165*

Associated Papers

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

Tomomasa D et al.

Journal of Clinical Immunology, 2024

Successful cord blood transplantation using reduced intensity conditioning in a 5-month-old patient with IL-10RA deficiency.

Isobe K et al.

Pediatric Blood & Cancer, 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

Clinical Spectrum of Monogenic Infantile-Onset Inflammatory Bowel Disease.

Ganesh R et al.

Indian Journal of Pediatrics, 2022

A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease.

Peng X et al.

Journal of Clinical Immunology, 2021

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

Su W et al.

World Journal of Gastroenterology, 2021

Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD.

Werner L et al.

Frontiers in Immunology, 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

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

Wang XQ et al.

Bmc Pediatrics, 2018

Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.

Ye Z et al.

Inflammatory Bowel Diseases, 2017

Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.

Shouval DS et al.

Inflammatory Bowel Diseases, 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.

Huang Z et al.

Inflammatory Bowel Diseases, 2017

[Interleukin-10 receptor mutations in children with neonatal onset inflammatory bowel disease: genetic diagnosis and pathogenesis].

Lu D et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

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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."