title: Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation.
abstract: Mycobacterium avium causes infections in immunocompromised individuals. Recurrent infection with this organism has been associated with a deletion at the 818 residue of the interferon-gamma receptor (IFN-gammaR). This mutation produces a truncated receptor without an intracytoplasmic tail, resulting in diminished signaling. We describe a substitution at the 832 residue of the IFN-gammaR causing a similar truncated receptor in a 7-year-old girl with recurrent M avium osteomyelitis.
authors.affiliation: University Hospitals, Case Western Reserve University, Cleveland, Ohio, USA.
authors.forename: A
authors.initials: A
authors.lastname: Villella
authors.forename: C
authors.initials: C
authors.lastname: Picard
authors.forename: E
authors.initials: E
authors.lastname: Jouanguy
authors.forename: S
authors.initials: S
authors.lastname: Dupuis
authors.forename: S
authors.initials: S
authors.lastname: Popko
authors.forename: N
authors.initials: N
authors.lastname: Abughali
authors.forename: H
authors.initials: H
authors.lastname: Meyerson
authors.forename: J L
authors.initials: JL
authors.lastname: Casanova
authors.forename: R W
authors.initials: RW
authors.lastname: Hostoffer
mesh_terms: D000911:Antibodies, Monoclonal; D002648:Child; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D015270:Mycobacterium avium-intracellulare Infection / Q000175:diagnosis* / Q000235:genetics; D010019:Osteomyelitis / Q000175:diagnosis* / Q000235:genetics / Q000382:microbiology*; D017471:Receptors, Interferon / Q000235:genetics*; D012008:Recurrence; D000096743:Interferon gamma Receptor
chemical_list: D000911:Antibodies, Monoclonal; D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor