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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.
Huang J et al.
Frontiers in Public Health, 2024
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
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
In vivo evolution of an emerging zoonotic bacterial pathogen in an immunocompromised human host.
Launay A et al.
Nature Communications, 2021
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J et al.
Journal of Clinical Immunology, 2018
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb D et al.
Nature Communications, 2016
Mutations in genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations.
Rudko AA et al.
Tuberculosis (edinburgh, Scotland), 2015
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 2014
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
Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.
Pedraza S et al.
Pediatrics, 2010
Antisense-mediated exon skipping to correct IL-12Rbeta1 deficiency in T cells.
van de Vosse E et al.
Blood, 2009
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
A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo.
Guia S et al.
Blood, 2008
Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.
Tanir G et al.
European Journal of Pediatrics, 2006
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
Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
Remus N et al.
The Journal of Infectious Diseases, 2004
IL-12 receptor deficiency revisited: IL-23-mediated signaling is also impaired in human genetic IL-12 receptor beta1 deficiency.
Hoeve MA et al.
European Journal of Immunology, 2003
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