Gene: IFNGR1

Alternate names for this Gene: CD119|IFNGR|IMD27A|IMD27B

Gene Summary: This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.3

Description of this Gene: interferon gamma receptor 1

Type of Gene: protein-coding

rs587776856 in IFNGR1 gene and IFN-gamma Receptor 1 Deficiency PMID 18171304 2008 Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency.

PMID 11583830 2001 Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor.

PMID 10192386 1999 A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.

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

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.

PMID 19880337 2010 Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency.

PMID 12712974 2003 Disseminated Mycobacterium peregrinum infection in a child with complete interferon-gamma receptor-1 deficiency.

rs7749390 in IFNGR1 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.