Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.Q261_P262Splc
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IL12RB1

NM_005535.3:p.Q261_P262Splc

Associated Papers

Recurrent Visceral Leishmaniasis in a Case With Interleukin-12 Receptor Beta-1 Deficiency.

Uygun H et al.

Acta Parasitologica, 2024

Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency.

Chbihi M et al.

Journal of Clinical Immunology, 2024

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

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

Huang J et al.

Frontiers in Public Health, 2024

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.

Philippot Q et al.

Science Immunology, 2023

36763636 (PubMed )
Supplement: NIHMS1878751-supplement-Supplementary_Materials_and_Methods.pdf

Clinical and Immunologic Characteristics of Non-Hematologic Cancers in Patients with Inborn Errors of Immunity.

Delavari S et al.

Cancers, 2023

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

Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.

Sharifinejad N et al.

Pediatric Rheumatology Online Journal, 2021

Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.

Ying W et al.

Journal of Clinical Immunology, 2019

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

Sarrafzadeh SA et al.

Journal of Clinical Immunology, 2019

Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey.

Doğruel D et al.

The Turkish Journal of Pediatrics, 2019

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

Rosain J et al.

Journal of Clinical Immunology, 2018

Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies.

Doğruel D et al.

The Turkish Journal of Pediatrics, 2018

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.

Tan Ç et al.

The Turkish Journal of Pediatrics, 2016

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

Ouederni M et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2014

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

van de Vosse E et al.

Human Mutation, 2013

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L et al.

Medicine, 2010

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.

Pedraza S et al.

Pediatrics, 2010

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.

Tanir G et al.

European Journal of Pediatrics, 2006

Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections.

Sanal O et al.

Journal of Clinical Immunology, 2006

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

Fieschi C et al.

The Journal of Experimental Medicine, 2003

Cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis in a child with interleukin-12 receptor beta-1 deficiency.

Filiz S et al.

Pediatric Dermatology, 0

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