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
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Esteve-Solé A et al.
Critical Reviews in Clinical Laboratory Sciences, 2018
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
Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV-8.
Jackson CC et al.
Pediatric Blood & Cancer, 2016
Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum.
Gao L et al.
The Journal of Allergy and Clinical Immunology, 2015
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 2014
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
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
HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency.
Camcioglu Y et al.
The Journal of Pediatrics, 2004
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.
Jouanguy E et al.
The Journal of Clinical Investigation, 2000
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
Dorman SE et al.
Lancet (london, England), 0