Associated Papers
IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
van de Vosse E et al.
Human Mutation, 2017
Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India.
Sharma VK et al.
Journal of Clinical Immunology, 2015
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
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
Kong XF et al.
Human Molecular Genetics, 2010
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.
Okada S et al.
Journal of Medical Genetics, 2007
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
Partial interferon-gamma receptor deficiency and non-tuberculous mycobacterial lung disease.
Hwang JH et al.
Tuberculosis (edinburgh, Scotland), 2006
Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections.
Storgaard M et al.
Scandinavian Journal of Immunology, 2006
Host susceptibility factors in mycobacterial infection. Genetics and body morphotype.
Guide SV et al.
Infectious Disease Clinics of North America, 2002
Mendelian susceptibility to mycobacterial infection in man.
Casanova JL
Swiss Medical Weekly, 2001
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
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
Jouanguy E et al.
Nature Genetics, 1999
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
Dorman SE et al.
Lancet (london, England), 0
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