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
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
Human atopic dermatitis complicated by eczema herpeticum is associated with abnormalities in IFN-γ response.
Leung DY et al.
The Journal of Allergy and Clinical Immunology, 2011
Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.
van de Wetering D et al.
Molecular Immunology, 2010
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
Dorman SE et al.
Lancet (london, England), 0
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