Associated Papers
IFNGR1, IRF8 genetic polymorphisms modulate the susceptibility of non-tuberculous mycobacteria pulmonary disease and influence the patients' treatment outcomes and immune status.
Cheng LP et al.
Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2025
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
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed
IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
van de Vosse E et al.
Human Mutation, 2017
Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions.
Bińczak-Kuleta A et al.
Bosnian Journal of Basic Medical Sciences, 2016
Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.
Qu HQ et al.
International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2011
Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.
van de Wetering D et al.
Molecular Immunology, 2010
Two patients with complete defects in interferon gamma receptor-dependent signaling.
Noordzij JG et al.
Journal of Clinical Immunology, 2007
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