Associated Papers
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes.
Wang C et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2025
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE et al.
Clinical Immunology (orlando, Fla.), 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
rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis.
Jelassi R et al.
Frontiers in Genetics, 2022
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Belhadj S et al.
Human Mutation, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb D et al.
Nature Communications, 2016
27329137 (PubMed )
Supplement: ncomms11883-s1.pdf
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E et al.
Human Mutation, 2013
A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
Yancoski J et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2009
Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain.
Haerynck F et al.
The Journal of Pediatrics, 2008
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