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PEDIATRICS Vol. 107 No. 4 April 2001, p. e47

ELECTRONIC ARTICLE:
Recurrent Mycobacterium avium Osteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation

Received Jul 11, 2000; accepted Nov 17, 2001.

Anthony Villella*, Capucine PicardDagger , Emmanuelle JouanguyDagger , Stéphanie DupuisDagger , Stacey Popko§, Nazha Abughaliparallel , Howard Meyerson*, Jean-Laurent CasanovaDagger , and Robert W. Hostoffer

From the * University Hospitals, Case Western Reserve University, Cleveland, Ohio; Dagger  Laboratory of Human Genetics of Infectious Diseases, Necker-Enfants Malades Medical School, Paris, France; § Private practice, Miami, Florida; parallel  Metro Health Center, Cleveland, Ohio; and  Private practice, South Euclid, Ohio.

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-gamma R). 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-gamma R causing a similar truncated receptor in a 7-year-old girl with recurrent M avium osteomyelitis.

 Key words:  Mycobacterium avium, interferon gamma receptor mutation.


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