ArticleFrontiers in pediatrics2026
Clinical analysis and follow up study of chronic granulomatous disease with neonatal onset.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To address the existing gap in knowledge regarding the small subset of chronic granulomatous disease (CGD) patients who present during the neonatal period, this study aimed to characterize their clinical features, genetic profiles, and long-term prognosis. Methods: This study retrospectively selected CGD patients with neonatal onset who were diagnosed using neutrophil respiratory burst tests and genetic analysis at the Guangzhou Women and Children's Medical Center, Guangzhou Medical University, between January 2018 and September 2024. Results: This study included nine male patients diagnosed with CGD presenting with neonatal onset. The median age at onset was 20 days (7-23 days). Pneumonia was observed in eight patients (88.9%), with Aspergillus species detected in five of these cases (62.5%). The stimulation index (SI) in the neutrophil oxidative burst assay was significantly reduced. All nine patients exhibited hemizygous variants in the Conclusion: Patients with CGD presenting in the neonatal period predominantly harbor mutations in the
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