Partial DHR Activity Masking X-Linked CGD: An Unusual Adolescent Presentation with Isolated Liver Abscess

Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by a defect in the nicotinamide adenine dinucleotide phosphate oxidase complex, leading to impaired phagocytic respiratory burst and inability to kill microorganisms. It typically presents in early childhood with recurrent, severe infections, with complications like liver abscesses usually occurring in late stages. An initial presentation during adolescence is uncommon and may delay recognition and management. Case Presentation : A previously healthy 14.5-year-old male presented with fever, right upper quadrant abdominal pain, and laboratory findings suggestive of systemic inflammation. Imaging revealed a large liver abscess that recurred after broad-spectrum antimicrobials and percutaneous drainage. Initial immunologic workup was inconclusive; however, oxidative burst testing revealed a reduced neutrophil function. Genetic testing confirmed a hemizygous CYBB gene mutation consistent with X-linked CGD. The patient was started on lifelong antimicrobial prophylaxis, and follow-up into late adolescence showed no further invasive infections. Conclusion CGD can rarely present for the first time in adolescence and initially manifest as a liver abscess. Delayed diagnosis can happen when the classical manifestations are not very obvious; thus, clinicians should maintain a high index of suspicion for CGD in older children, adolescents, and even adult patients with recurrent or resistant liver abscesses.