Associated Papers
Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.
Huang J et al.
Frontiers in Public Health, 2024
38317798 (PubMed )
Supplement: Data_Sheet_1.XLSX › Sheet1
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
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J et al.
Journal of Clinical Immunology, 2018
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
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L et al.
The Journal of Experimental Medicine, 2008
18591412 (PubMed )
Supplement: jem.20080321_5.pdf
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
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
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