Condition: IFN-gamma Receptor 1 Deficiency
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.