An Adult-Onset Chronic Granulomatous Disease Case with Hemophagocytic Lymphohistiocytosis Caused by Burkholderia and Aspergillus Infections

Chronic granulomatous disease (CGD) is a congenital disorder impairing phagocyte function, causing recurrent, life-threatening infections, and is rarely seen in adulthood. We present a 36-year-old male initially diagnosed with pneumonia. Bronchoalveolar lavage and blood cultures yielded Burkholderia multivorans/cepacia complex, sputum cultures Aspergillus niger. Despite the antimicrobial treatment, his condition deteriorated. His clinical and laboratory findings indicated hemophagocytic lymphohistiocytosis. He responded to steroids. Nitroblue tetrazolium and dihydroergotamine-123 tests confirmed CGD. Whole exome sequencing identified NCF1 deletion. He received interferon-gamma, voriconazole, and trimethoprim-sulfamethoxazole. Allogeneic hematopoietic stem cell transplantation was planned. This case report improves understanding of CGD in adults, aiming to enhance diagnostic and therapeutic strategies.