Varaico: Literature-Extracted Genetic Variants

Gene:IL10RB
Variant:p.E141*
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IL10RB

NM_000628.5:p.E141*

Associated Papers

A novel biallelic 19-bp deletion in the IL10RB gene caused infant-onset inflammatory bowel disease in a consanguineous family: a molecular docking simulation study and literature review.

Motallebi F et al.

Molecular Biology Reports, 2024

Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.

Korol CB et al.

Journal of Clinical Immunology, 2023

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_MOESM7_ESM.xlsx › Table_S1

A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).

Riaz IB et al.

Frontiers in Immunology, 2019

Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group.

Pigneur B et al.

Inflammatory Bowel Diseases, 2013

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.

Neven B et al.

Blood, 2013

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

IL-10 and IL-10 receptor defects in humans.

Glocker EO et al.

Annals of the New York Academy of Sciences, 2011

Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.

Begue B et al.

The American Journal of Gastroenterology, 2011

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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."