The value of DHR-enzyme-linked immunosorbent assay in the diagnosis of chronic granulomatous disease by detecting NADPH oxidase complex activity.

Background: A rapid, easy, and accurate method for screening Chronic Granulomatous Disease (CGD) is crucial. This study aimed to propose and evaluate the effectiveness of the DHR-Enzyme-linked immunosorbent assay (DHR-ELISA) for assessing NADPH oxidase complex activity in the early screening of CGD.

Methods: We conducted a retrospective analysis of 72 children suspected of having CGD who underwent NADPH oxidase activity assessment and genetic testing at Beijing Children's Hospital between July 2015 and January 2022.

Results: Of the subjects, 57 were male and 15 were female, resulting in a male-to-female ratio of 3.8:1. The median age at onset was 6 months, and the median age at diagnosis was 15 months. Thirty-eight patients were diagnosed with CGD based on typical clinical manifestations and genetic testing, exhibiting symptoms such as left lymphadenopathy or calcification (65.8%), a large Calmette-Guérin scar (60.5%), a history of skin or other lymph node infections (52.6%), and specific pulmonary infections (23.7%). Thirty-one patients exhibited normal enzyme activity, whereas 41 showed reduced activity. The DHR-ELISA method demonstrated a specificity of 90% and a sensitivity ranging from 90.5% to 100% in detecting CGD.

Conclusion: The DHR-ELISA is a rapid, easy, cost-effective, and efficient method for screening CGD, making it suitable for early diagnosis and potentially improving prognosis.