title: Gamma interferon receptor defect presenting as recurrent tuberculosis.
abstract: Failure of response to therapy in childhood tuberculosis may be due to resistance, paradoxical response or immunodeficiency. Interferon-γ (IFNγ) plays a major role during host defense against Mycobacterium tuberculosis (Mtb). An 8-y-old boy presented with fever, hepatosplenomegaly and parotid abscess. He had been earlier treated for BCG adenitis in infancy and at 5 y for TB osteomyelitis of iliac bone and recovered. Investigations confirmed disseminated Mycobacterium Avium Intracellulare infection. He was investigated for immunodeficiency because of recurrent mycobacterial disease and a partial defect of γ-interferon receptor was identified. He required a 2 y course of therapy with a 7 drug regimen and recovered. The authors report this case because of its rarity and to highlight the need to consider γ-interferon receptor defect in the presence of recurrent tuberculosis (TB) and also review the options for therapy.
authors.affiliation: Department of Pediatrics, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, 600034, India, sbsped53@sify.com.
authors.forename: Balasubramanian
authors.initials: B
authors.lastname: Sundaram
authors.forename: Sumanth
authors.initials: S
authors.lastname: Amperayani
authors.forename: K
authors.initials: K
authors.lastname: Dhanalakshmi
authors.forename: Swathi
authors.initials: S
authors.lastname: Padmanaban
mesh_terms: D002648:Child; D006801:Humans; D008297:Male; D009154:Mutation; D017471:Receptors, Interferon / Q000235:genetics*; D012008:Recurrence; D014376:Tuberculosis / Q000235:genetics*; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor