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.
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Acknowledgments
The authors thank Jacinta Bustamante, Jean-Laurent Casanova and Stephanie Boisson-Dupuis for their ready help in arriving at the diagnosis and for performing the necessary advance investigations free of cost for the patient. (Laboratoire de Génétique Humaine, des Maladies Infectieuses INSERM - U550, Faculté de Médecine Necker, 156 rue de Vaugirard, 75015 Paris, FRANCE, UE).
Contributions
BS managed the case and contributed to the preparation of the manuscript. SA contributed to patient management and did the literature search. KD contributed to patient management and literature search. SP carried out literature search and helped in preparing the manuscript.
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Sundaram, B., Amperayani, S., Dhanalakshmi, K. et al. Gamma Interferon Receptor Defect Presenting as Recurrent Tuberculosis. Indian J Pediatr 81, 696–698 (2014). https://doi.org/10.1007/s12098-013-1060-5
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DOI: https://doi.org/10.1007/s12098-013-1060-5