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Published on: November 16, 2016
Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect
Sheela Nampoothiri1, Surjit Singh, K N Parameswaran Nampoothiri
1Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Aims Ponekkara PO, Cochin 682041, Kerala, India. sheeladr@gmail.com
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.
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