Article
Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation.
Pediatrics - 1 Apr 2001
Villella A, Picard C, Jouanguy E, Dupuis S, Popko S, Abughali N, Meyerson H, Casanova J L, Hostoffer R W
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.