Research Progress on Chronic Granulomatous Disease in Children

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder characterized by defective neutrophil oxidative burst function, leading to impaired host defense against pathogenic microorganisms. This condition significantly increases the risk of invasive infections in affected patients. However, the clinical manifestations of CGD are not limited to infection-related complications; non-infectious complications can also lead to a variety of clinical symptoms. The global occurrence rate of CGD varies, and its inheritance patterns include X-linked and autosomal recessive forms. Research indicates that CGD patients are predominantly children who frequently face life-threatening infections and related complications, with early diagnosis often being challenging. Currently, hematopoietic stem cell transplantation (HSCT) is the only widely applied curative treatment for CGD. Recent advances in gene therapy offer a promising, safer, and more directly suitable alternative. This review primarily focuses on the pathophysiology, molecular genetics, occurrence rate, clinical manifestations, laboratory diagnosis, and cellular therapies of pediatric CGD, aiming to offer ideas for its clinical diagnosis.