Variant: rs104893973 

    present in Gene: IFNGR1
    present in Chromosome: 6
    Position on Chromosome: 137206249
    Alleles of this Variant: A/G

rs104893973 in IFNGR1 gene and IMMUNODEFICIENCY 27A PMID 27868075 2019 Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease.

PMID 16195661 2006 Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency.

PMID 16715106 2006 Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency.

PMID 22708048 2012 Mendelian susceptibility to mycobacterial disease in egyptian children.

PMID 9389728 1997 Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.

PMID 10811850 2000 In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.

PMID 11139207 2001 A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency.

PMID 28744922 2017 IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.

PMID 20186794 2010 Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

PMID 15589309 2005 Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.

PMID 17514500 2007 Two patients with complete defects in interferon gamma receptor-dependent signaling.

PMID 20015550 2010 Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.

PMID 25592983 2015 Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.