Clinical Evaluation and Longitudinal Study of Neonatal-Onset Chronic Granulomatous Disease
Overview
This study characterizes the clinical features, genetic profiles, and long-term prognosis of neonatal-onset chronic granulomatous disease (CGD) in nine male patients. The findings indicate a high prevalence of pneumonia and significant mortality during infancy.
Background
Chronic granulomatous disease (CGD) is a primary immunodeficiency that leads to severe bacterial and fungal infections due to defects in the innate immune system. Neonatal-onset CGD is particularly rare and poses unique challenges in diagnosis and management. Understanding the clinical characteristics and genetic mutations associated with this early onset can aid in timely intervention and improve patient outcomes.
Data Highlights
Parameter
Value
Median age at onset
20 days (7–23 days)
Pneumonia prevalence
88.9%
Aspergillus species detection
62.5%
Median hospital stay
42 days (15.5–48 days)
Mortality during hospitalization
3 patients
Key Findings
All nine patients exhibited hemizygous variants in the CYBB gene.
Pneumonia was observed in 88.9% of patients, with Aspergillus species detected in 62.5% of these cases.
The stimulation index in the neutrophil oxidative burst assay was significantly reduced.
Three patients died due to disease progression during their initial hospitalization.
Two patients underwent hematopoietic stem cell transplantation (HSCT) and achieved complete clinical remission.
Clinical Implications
The study emphasizes the need for genetic testing in neonatal CGD.
Conclusion
Neonatal-onset CGD is associated with severe clinical manifestations.
