Associated Papers
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
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Peñafiel Vicuña AK et al.
Journal of Clinical Immunology, 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
Sarrafzadeh SA et al.
Journal of Clinical Immunology, 2019
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J et al.
Journal of Clinical Immunology, 2018
Mutations in genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations.
Rudko AA et al.
Tuberculosis (edinburgh, Scotland), 2015
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E et al.
Human Mutation, 2013
IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.
Boisson-Dupuis S et al.
Plos One, 2011
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L et al.
Medicine, 2010
Select a paper to view details