Clinical analysis and follow up study of chronic granulomatous disease with neonatal onset

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.

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.

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 CYBB gene. The median hospital stay was 42 days (15.5-48 days). Three patients died due to disease progression during their initial hospitalization. Regarding long-term prognosis, one patient was lost to follow-up at six months of age, and three patients died from severe infections during infancy. The remaining two patients underwent hematopoietic stem cell transplantation (HSCT) and achieved complete clinical remission.

Patients with CGD presenting in the neonatal period predominantly harbor mutations in the CYBB gene, which are associated with severe clinical manifestations. Aspergillus species are the most common pathogens in these patients. Although the prognosis is generally poor, it may be improved by hematopoietic stem cell transplantation (HSCT).