Associated Papers
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
Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.
Alodayani AN et al.
Journal of Clinical Immunology, 2018
Chronic Disseminated Salmonellosis in a Patient With Interleukin-12p40 Deficiency.
Alaki EM et al.
The Pediatric Infectious Disease Journal, 2018
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Prando C et al.
Medicine, 2013
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.
Pedraza S et al.
Pediatrics, 2010
A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
Yancoski J et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2009
IL12B polymorphisms are linked but not associated with Plasmodium falciparum parasitemia: a familial study in Burkina Faso.
Barbier M et al.
Genes and Immunity, 2008
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
Filipe-Santos O et al.
Seminars in Immunology, 2006
Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.
Döffinger R et al.
Molecular Immunology, 2002
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
Picard C et al.
American Journal of Human Genetics, 2002
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