D1.316 - Lessons Learned from the Diagnosis and Management of a female pediatric patient with NCF2 Mutations and Chronic Granulomatous Disease
Case report
Background:
Chronic granulomatous disease (CGD) is a rare inherited inborn error of immunity caused by defects in phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, leading to impaired microbial killing. This case highlights diagnostic and management challenges in CGD within resource-limited settings.
Methods:
Case report. Informed consent was obtained from the patient’s legal guardian.
Results:
A previously healthy 5-year-old girl presented with recurrent febrile episodes and respiratory symptoms, initially diagnosed as pneumonia. The infection was unresponsive to antibiotics. Bronchoalveolar lavage revealed a low positive galactomannan test, leading to a two-week course of antifungal therapy. Fever recurred shortly after discharge, prompting a second evaluation.
An immunologic workup revealed significantly reduced dihydrorhodamine (DHR) oxidation (12.7%), consistent with CGD. Imaging showed bilateral pulmonary consolidations, adenitis, and hepatosplenomegaly. Genetic testing identified a homozygous NCF2 mutation encoding the p67phox subunit of NADPH oxidase.
Recurrent fevers and pulmonary abscesses necessitated prolonged antifungal therapy with voriconazole and initiation of interferon-gamma (IFN-γ). Family screening identified carrier status in parents and siblings with overlapping pathogenic variants. Over 12 months, the patient improved with prophylactic antimicrobials, antifungal therapy, optimized nutrition, and structured immunologic care.
Conclusions:
This case underscores the importance of early recognition and genetic confirmation of CGD in patients with opportunistic infections. Multidisciplinary management, including antifungal therapy and IFN-γ, effectively reduced disease burden. However, this case highlights the need for greater CGD awareness in endemic areas and better access to curative options like hematopoietic stem cell transplantation, currently under evaluation at our institution. It illustrates the critical interplay of clinical expertise, advanced diagnostics, and multidisciplinary care in optimizing outcomes for CGD patients.
