Seven chronic granulomatous disease cases in a single-center experience and a review of the literature

Abstract

Background: Chronic granuloniatous disease (CGD) is a rare primary immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme system. this disease causes the disordered functioning of phagocytic cells. It is characterized by life-threatening and/or recurrent infections by bacteria and fungi. CGD has both an X-linked recessive (X-CGD) and autosomal recessive (AR-CGD) phenotypes. AR form have four subtypes including defects with one of these NADPH oxidase components (p22, p40, p47 and p67(Phox)). Objectives: To report the clinical and laboratory characteristics of seven CGD patients based on their genetic characteristics. Methods: Seven boys with CGD were reviewed based on clinical findings and genetic results. Dihydrorhodamine-1,2,3 (DHR) assay was used as a diagnostic test. Genetic analysis was conducted to establish moleculer diagnoses in all patients. Results: The age of diagnosis was varied between 1.5 years and 15 years. The most frequent clinical presentation was pneumonia, and two patients had BCG-itis. Pour patients had the AR-CGD phenotype, and three patients had the X-CGD phenotype. Severe invasive infections due to Aspergillus, Staphylococcus, and Serratia species were reported. Frequent lung and lymph node involvement was observed during follow-up of the cases. Conclusions: CGD is life-threatening disease that involves deep-seated infection. In our patients, the most commonly affected organs were the lungs and lymph nodes. Phagocytic disorders should be considered in cases of recurrent infectious diseases, invasive fungal diseases, BCG complications that are not self-limiting, unexplained lymphadenitis or osteomyelitis, and chronic inflammatory disorders.