Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of 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
Adult-onset Mendelian Susceptibility to Mycobacterial Diseases: A case report and systematic literature review.
Yang Y et al.
Heliyon, 2023
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in 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
Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.
Liu M et al.
Journal of Clinical Immunology, 2020
Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.
Ying W 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
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin A et al.
Biomed Research International, 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
Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.
Pedraza S et al.
Pediatrics, 2010
Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.
van de Vosse E et al.
Human Molecular Genetics, 2005
Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae.
van de Vosse E et al.
The Lancet. Infectious Diseases, 2004
Genetic variations in the interleukin-12/interleukin-23 receptor (beta1) chain, and implications for IL-12 and IL-23 receptor structure and function.
van de Vosse E et al.
Immunogenetics, 2003
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
Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency.
Lichtenauer-Kaligis EG et al.
European Journal of Immunology, 2003
Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.
Döffinger R et al.
Molecular Immunology, 2002
Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.
Altare F et al.
The Journal of Infectious Diseases, 2001
Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection.
Sakai T et al.
Blood, 2001