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
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
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation.
Vogelaar IP et al.
Familial Cancer, 2015
Mutations in genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations.
Rudko AA et al.
Tuberculosis (edinburgh, Scotland), 2015
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
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
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
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