Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.
Sharifinejad N et al.
Pediatric Rheumatology Online Journal, 2021
Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.
Tan Ç et al.
The Turkish Journal of Pediatrics, 2016
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: 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
Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta1 deficiency.
van de Vosse E et al.
Infection, 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
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
Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency.
Kutukculer N et al.
The Journal of Pediatrics, 2006
Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections.
Sanal O et al.
Journal of Clinical Immunology, 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
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
Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency.
Aksu G et al.
The Pediatric Infectious Disease Journal, 2001