title: Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect.
abstract: Multifocal Tuberculous (TB) osteomyelitis is an extremely rare entity in immunocompetent individuals. The authors report a 19-mo-old girl with multifocal TB osteomyelitis which resolved completely following institution of four drug antituberculous treatment for 1 y and detailed immunological evaluation was found to be normal but as the response of interferon gamma (IFN γ) in terms of production of IL12p40 was severely impaired, she is suggested to have a possible defect in the interferon gamma axis even though the exact defect in the pathway could not be delineated. This case report reiterates the need for detailed immunological evaluation in children presenting with multifocal TB osteomyelitis.
authors.affiliation: Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Aims Ponekkara PO, Cochin 682041, Kerala, India. sheeladr@gmail.com
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
authors.forename: Surjit
authors.initials: S
authors.lastname: Singh
authors.forename: K N Parameswaran
authors.initials: KN
authors.lastname: Nampoothiri
authors.forename: Stephanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.forename: Laurent
authors.initials: L
authors.lastname: Abel
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D000995:Antitubercular Agents / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007223:Infant; D053711:Interleukin-12 Receptor beta 1 Subunit / Q000378:metabolism; D009169:Mycobacterium tuberculosis / Q000302:isolation & purification*; D010019:Osteomyelitis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000382:microbiology*; D011859:Radiography; D017471:Receptors, Interferon / Q000172:deficiency*; D015398:Signal Transduction; D014394:Tuberculosis, Osteoarticular / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000382:microbiology*; D000096743:Interferon gamma Receptor
chemical_list: D000995:Antitubercular Agents; D053711:Interleukin-12 Receptor beta 1 Subunit; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor