Associated Papers
Fatal Mycobacterium tilburgii disseminated infection in a patient with cryptic interleukin-12Rβ1 deficiency: A case report.
Eon S et al.
International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2026
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
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
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
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J et al.
Journal of Clinical Immunology, 2018
First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren's Syndrome.
Sogkas G et al.
Frontiers in Immunology, 2017
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.
Ma CS et al.
The Journal of Experimental Medicine, 2016
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J et al.
Seminars in Immunology, 2014
Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.
Ramirez-Alejo N et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2014
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 and disseminated Mycobacterium tilburgii disease.
Schepers K et al.
Journal of Clinical Immunology, 2013
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
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
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