Associated Papers
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
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 Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.
Bandari AK et al.
Frontiers in Immunology, 2019
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
Martínez-Barricarte R et al.
Journal of Clinical Immunology, 2014
Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.
Ramirez-Alejo N et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2014
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 2014
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M et al.
Blood, 2013
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Kong XF et al.
Human Molecular Genetics, 2013
Genetically determined susceptibility to mycobacterial infection.
Patel SY et al.
Journal of Clinical Pathology, 2008
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
Vogt G et al.
The Journal of Experimental Medicine, 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
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G et al.
Nature Genetics, 2005
A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states.
Rosenzweig SD et al.
Journal of Immunology (baltimore, Md. : 1950), 2004