Varaico: Literature-Extracted Genetic Variants

Gene:IL10RB
Variant:p.W159*
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IL10RB

NM_000628.5:p.W159*

Associated Papers

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

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

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

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.

Aykut A et al.

Immunologic Research, 2024

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

Systematic genetic analysis of pediatric patients with autoinflammatory diseases.

Poker Y et al.

Frontiers in Genetics, 2023

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

Sharifinejad N et al.

Clinical and Experimental Immunology, 2022

Genetic Correction of IL-10RB Deficiency Reconstitutes Anti-Inflammatory Regulation in iPSC-Derived Macrophages.

Hoffmann D et al.

Journal of Personalized Medicine, 2021

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

Xu S et al.

Experimental and Therapeutic Medicine, 2018

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

Shouval DS et al.

Inflammatory Bowel Diseases, 2017

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.

Karaca NE et al.

Case Reports in Immunology, 2016

Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflammatory bowel disease.

Beser OF et al.

Journal of Pediatric Gastroenterology and Nutrition, 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

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

Kotlarz D et al.

Gastroenterology, 2012

Inflammation profile of four early onset Crohn patients.

Marcuzzi A et al.

Gene, 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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