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-γ receptor (IFN-γR). 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-γR causing a similar truncated receptor in a 7-year-old girl with recurrent M avium osteomyelitis.
Recurrent Mycobacterium avium Osteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation
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Anthony Villella, Capucine Picard, Emmanuelle Jouanguy, Stéphanie Dupuis, Stacey Popko, Nazha Abughali, Howard Meyerson, Jean-Laurent Casanova, Robert W. Hostoffer; Recurrent Mycobacterium avium Osteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation. Pediatrics April 2001; 107 (4): e47. 10.1542/peds.107.4.e47
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