Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation

Authors
Villella, A Picard, C Jouanguy, E Dupuis, S Popko, S Abughali, N Meyerson, H Casanova, JL Hostoffer, RW
Citation
A. Villella et al., Recurrent Mycobacterium avium osteomyelitis associated with a novel dominant interferon gamma receptor mutation, PEDIATRICS, 107(4), 2001, pp. NIL_16-NIL_18
Citations number
17
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
PEDIATRICS
ISSN journal
00314005 → ACNP
Volume
107
Issue
4
Year of publication
2001
Pages
NIL_16 - NIL_18
Database
ISI
SICI code
0031-4005(200104)107:4<NIL_16:RMAOAW>2.0.ZU;2-Q
Abstract
Mycobacterium avium causes infections in immunocompromised individuals. Rec urrent infection with this organism has been associated with a deletion at the 818 residue of the interferon-gamma receptor (IFN-gammaR). This mutatio n 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 wi th recurrent M avium osteomyelitis.