Abstract
Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome that results from abnormal nicotinamide adenine dinucleotide phosphate (NADPH) oxidase function. This defect leads to recurrent catalase-positive bacterial and fungal infections as well as associated granuloma formation. We review the case of a 2-year-old boy who presented with ascites and fever of an unknown origin as manifestations of CGD. Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy. Genetic testing revealed a novel mutation in the CYBB gene underlying his condition. This paper highlights the importance of considering CGD in the differential diagnosis of fever of unknown origin and ascites in children.
Highlights
Chronic granulomatous disease (CGD) results from the inability of neutrophils to complete the first step of the respiratory burst pathway, generation of superoxide, with the downstream consequence of impaired microbe killing
The pigment forms as macrophages clear neutrophils that have undergone apoptosis, with subsequent cytoplasmic accumulation of ceroid pigment, their golden or orange-brown color by light microscopy [10]
In the 1960s and 1970s, defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase was found to be the cause of CGD, leading to development of the nitroblue tetrazolium (NBT) test for diagnosis [11, 12]
Summary
Chronic granulomatous disease (CGD) results from the inability of neutrophils to complete the first step of the respiratory burst pathway, generation of superoxide, with the downstream consequence of impaired microbe killing. Case Reports in Immunology converted to hydrogen peroxide via superoxide dismutase and to hypochlorous acid (by myeloperoxidase), which is lethal to bacteria [5]. Individuals with CGD are able to utilize hydrogen peroxide made by microbes and convert it to hypochlorous acid to preserve microbe killing, yet catalasepositive bacteria can prevent this step by degrading the hydrogen peroxide. 70% of CGD cases are associated with mutations in the CYBB gene on the X chromosome, but well over 300 different CYBB mutations have been reported in association with the disease [7]. We describe an unusual case of CGD in a child with a novel mutation in exon 13 of the CYBB gene who presented with an isolated lymphadenitis and months later developed ascites and culture-negative, granulomatous peritonitis
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
