Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.T84I
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IL10RA

NM_001558.4:p.T84I

Associated Papers

Identification of Novel IL-10RA Variant in Infantile-Onset Inflammatory Bowel Disease: A Case Series With Preliminary Genotype-Phenotype Correlation From Two Chinese Families.

Guan C et al.

Case Reports in Medicine, 2025

Matched Unrelated Donor Hematopoietic Stem Cell Transplant as Successful Curative Therapy for IL10RB Mutation-Associated Very Early Onset IBD.

Grotra R et al.

Pediatric Transplantation, 2024

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

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

Primary immunodeficiency-related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China.

Zhu T et al.

Clinical & Translational Immunology, 2021

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

Sasahara Y et al.

Frontiers in Immunology, 2021

Investigation of inflammatory bowel disease risk factors in 4 families in central China.

Xu S et al.

Experimental and Therapeutic Medicine, 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

[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

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

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

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

Engelhardt KR et al.

The Journal of Allergy and Clinical Immunology, 2013

Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.

Li MX et al.

Plos Genetics, 2013

Interleukin-10 and interleukin-10-receptor defects in inflammatory bowel disease.

Shah N et al.

Current Allergy and Asthma Reports, 2012

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.

Kotlarz D et al.

Gastroenterology, 2012

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.

Mao H et al.

Genes and Immunity, 2012

Inflammation profile of four early onset Crohn patients.

Marcuzzi A et al.

Gene, 2012

Genetic disorders with immune dysregulation.

Gambineri E et al.

Cellular and Molecular Life Sciences : Cmls, 2012

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2011

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

Glocker EO et al.

The New England Journal of Medicine, 2009

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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."