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
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
Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.
Zhou Z et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022
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
Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency.
Dotta L et al.
Frontiers in Immunology, 2020
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
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J et al.
Seminars in Immunology, 2014
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 2014
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.
Sologuren I et al.
Human Molecular Genetics, 2011
Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.
van de Wetering D et al.
Molecular Immunology, 2010
A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency.
Allende LM et al.
Clinical and Diagnostic Laboratory Immunology, 2001