[An adolescent male presenting with fever and pulmonary opacities]

A 17-year-old male, born to consanguineous parents, presented with recurrent pneumonia since infancy and a persistent fever for 7 months. Serial chest CT demonstrated migrating multi-lobar consolidations. Initial empirical antibiotic therapy was ineffective and culture of bronchoalveolar lavage fluid was negative. A transbronchial biopsy revealed necrotizing granulomatous inflammation. Dihydrorhodamine assay demonstrated absent oxidative burst in the patient, subsequent genomic analysis identified a homozygous pathogenic NCF1 variation (c.75_76del; p.Tyr26Hisfs*26), confirming the diagnosis of chronic granulomatous disease. His symptoms resolved with treatment of trimethoprim-sulfamethoxazole, itraconazole and glucocorticoids. Significant radiographic improvement was documented at 3-month follow-up.