Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.R283*
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IL12RB1

NM_005535.3:p.R283*

Associated Papers

A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection.

Qian M et al.

Journal of Clinical Immunology, 2025

Consanguineous marriages increase the incidence of recurrent tuberculosis: Evidence from whole exome sequencing.

Akbar NU et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2024

Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.

Huang J et al.

Frontiers in Public Health, 2024

38317798 (PubMed )
Supplement: Data_Sheet_1.XLSX › Sheet1

Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.

Lyra PT et al.

Journal of Clinical Immunology, 2022

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

Sarrafzadeh SA et al.

Journal of Clinical Immunology, 2019

Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.

Zhou X et al.

Plos One, 2019

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Rosain J et al.

Journal of Clinical Immunology, 2018

Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients.

Alinejad Dizaj M et al.

Immunogenetics, 2018

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse E et al.

Human Mutation, 2013

Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium.

Schejbel L et al.

Scandinavian Journal of Immunology, 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."