A chronic granulomatous disease masked by tuberculosis in an young infant

Manas Ranjan Sahoo, Sunil Nath Jondhale, Anil Kumar Goel


Chronic granulomatous disorder is a rare primary immunodeficiency disorder with phagocytic defect resulting in recurrent bacterial infections. Here we report a 2-year 2-month old male child, who presented with recurrent lymphadenitis and recurrent pneumonia since early infancy. In recent episode he presented with right cervical lymphadenopathy. Biopsy of lymph node revealed confluent necrotizing epithelioid cell granulomas and occasional giant cells but without evidence of tuberculosis and atypical organisms. His dihydrorhodamine 1,2,3 assay (DHR) was positive. Later he responded to prolonged parenteral antibiotics and discharged on itraconazole and trimethoprim-sulhamethaxazole prophylaxis. Here we are going to report a rare case of chronic granulomatous disease whose diagnosis was masked by tuberculosis


Chronic granulomatous disease, Dihydrorhodamine assay, Recurrent pneumonia

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Seger RA. Chronic granulomatous disease: recent advances in pathophysiology and treatment. Neth J Med. 2010;68(11):334-40.

Segal BH, Veys P, Malech H, Cowan MJ. Chronic granulomatous disease: lessons from a rare disorder. Biol Blood Marrow Transplant. 2011;17(1 Suppl):123-31.

Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10.

Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79(3):155-69.

Vowells SJ, Fleisher TA, Malech HL. Testing for chronic granulomatous disease. Lancet. 1996;347(9007):1048-9.

Jirapongsananuruk O, Malech HL, Kuhns DB, Niemela JE, Brown MR, Anderson-Cohen M, et al. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol. 2003;111(2):374-9.

Gallin JI, Alling DW, Malech HL, Wesley R, Koziol D, Marciano B, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med. 2003;348(24):2416-22.

Beauté J, Obenga G, Le Mignot L, Mahlaoui N, Bougnoux ME, Mouy R, et al. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pediatr Infect Dis J. 2011;30(1):57-62.

Mouy R, Veber F, Blanche S, Donadieu J, Brauner R, Levron JC, et al. Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with chronic granulomatous disease. J Pediatr. 1994;125(6 Pt 1):998-1003.