The following is a summary of “Chronic Granulomatous Disease: A Single-Center Experience in Central Anatolia,” published in the June 2024 issue of Pediatrics by Gul et al.

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by a defect in the NADPH oxidase complex of neutrophils, resulting in impaired microbial killing. This study aimed to analyze the clinical, demographic, and laboratory findings of 17 CGD patients followed between 2002 and 2021 at the center.

Researchers conducted a retrospective review of patient records to gather relevant data. Among the 17 patients, 10 were male and 7 were female. The median age at diagnosis for patients with X-linked CGD (X-CGD) was 5.3 months (range 4–120 months), while for those with autosomal recessive CGD (AR-CGD), it was 42.4 months (range 8–350 months). Genetic analysis revealed a rare CYBA exon 3-6 deletion in 7 patients and a hotspot mutation with delGT at the beginning of exon 2 of NCF1 in 5 patients. Clinically, the most common manifestations were pneumonia and lymphadenitis, often accompanied by recurrent fever, occurring in 41.2% and 35.3% of patients.

Over the follow-up period, 154 microbial infections necessitating hospital admission were documented, with 27 infections in 3 patients with X-CGD and 127 infections in 14 patients with AR-CGD. The median number of infections per patient was 9 in both groups. Eight of the 17 patients underwent hematopoietic stem cell transplantation (HSCT), resulting in a survival rate of 87.5%.

The findings indicate that patients with X-CGD are often diagnosed earlier due to family history and the severity of infections, compared to patients with AR-CGD. Early prophylactic measures reduce the frequency of infectious episodes. Identifying a large CYBA exon 3-6 deletion suggests a potential founder effect in Central Anatolia. Importantly, HSCT has proven to significantly improve survival outcomes for patients with CGD, underscoring the importance of early diagnosis and appropriate therapeutic interventions.

Source: sciencedirect.com/science/article/pii/S1875957224000937