Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder caused by defects in the NADPH oxidase complex, which impairs the ability of phagocytes to generate reactive oxygen species, leaving patients vulnerable to recurrent infections. However, CGD patients often exhibit a variety of noninfectious manifestations.
The aim of this study was to identify and characterize the noninfectious manifestations observed in patients with CGD.
This retrospective study was conducted over a period of 33 years (1991–2024) and included all patients diagnosed with CGD and followed at our institution. Noninfectious complications were identified based on clinical, endoscopic, and histopathological evaluations.
A wide range of noninfectious manifestations was observed in the 101 patients included in the study. One patient presented with Evans syndrome, which was successfully treated with corticosteroids, leading to complete remission. Inflammatory bowel disease affected four patients, all treated with corticosteroids and immunosuppressants, resulting in clinical improvement. Other manifestations included subcutaneous nodules (n = 3), cutaneous granulomas (n = 3), and hepatic granulomas (n = 2), one of which was complicated by hepatic cytolysis and splenic granuloma (n = 1). A significant proportion of patients (n = 46) exhibited growth retardation. Allergic manifestations included eczema (n = 9), cow’s milk protein allergy (n = 2), and allergic conjunctivitis (n = 1).
Noninfectious manifestations in CGD patients are varied and can significantly affect clinical management. These complications, often due to dysregulated immune responses, require specific treatments. Early recognition and tailored management of these manifestations are crucial for improving the long-term prognosis of CGD patients.
