title: Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections.
abstract: In 1981 we presented a patient with Mycobacterium intracellulare osteomyelitis and depressed monocyte cytotoxicity. It is now demonstrated that the molecular defect was a never-before-described nucleotide deletion at position 794 (794delT) in the interferon-gamma-receptor alpha-1 gene. The genetic defect was passed on to his daughter who was diagnosed with non-tuberculous mycobacterial osteomyelitis at the age of 7 years.
authors.affiliation: Department of Infectious Diseases, Arhus University Hospital, Aarhus N, Denmark. m.storgaard@dadlnet.dk
authors.forename: M
authors.initials: M
authors.lastname: Storgaard
authors.forename: K
authors.initials: K
authors.lastname: Varming
authors.forename: T
authors.initials: T
authors.lastname: Herlin
authors.forename: N
authors.initials: N
authors.lastname: Obel
mesh_terms: D001483:Base Sequence; D002648:Child; D004269:DNA, Bacterial / Q000737:chemistry / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015269:Mycobacterium avium Complex / Q000254:growth & development*; D015270:Mycobacterium avium-intracellulare Infection / Q000235:genetics* / Q000276:immunology* / Q000382:microbiology; D010019:Osteomyelitis / Q000235:genetics* / Q000276:immunology / Q000382:microbiology*; D017354:Point Mutation; D017471:Receptors, Interferon / Q000172:deficiency / Q000235:genetics*; D017422:Sequence Analysis, DNA; D000096743:Interferon gamma Receptor
chemical_list: D004269:DNA, Bacterial; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor