Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation.
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.
Villella
A
A
University Hospitals, Case Western Reserve University, Cleveland, Ohio, USA.
Picard
C
C
Jouanguy
E
E
Dupuis
S
S
Popko
S
S
Abughali
N
N
Meyerson
H
H
Casanova
J L
JL
Hostoffer
R W
RW
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
D000911:Antibodies, Monoclonal; D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor