Imaging in patients with chronic granulomatous disease

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in any of the subunits of nicotinamide adenine dinucleotide phosphate oxidase complex, required for proper phagocyte killing of bacteria and fungi. Most of the cases are X-linked, but autosomal recessive cases have also been identified. Patients suffer from recurrent, life-threatening infections and granulomatous inflammation of the skin, lymph nodes, lungs, liver, spleen, brain, and bones. CGD can be cured by hematopoietic stem cell transplantation. Imaging studies such as radiography, ultrasound, computed tomography, and magnetic resonance imaging play a key role in identifying the changes driven by both infection and dysregulated inflammation. These studies are critical for guiding management of this disorder. We present the most illustrative images from 7 patients with CGD.

Statement of novelty: Imaging studies are highly useful for diagnosis, treatment, and follow-up of patients with CGD. We present images from children with CGD that manifested their disease in different organs and tissues, illustrating the typical location of infections and dysregulated inflammation in these types of patients.