A case of chronic granulomatous disease diagnosed in adulthood

Abstract

Chronic granulomatous disease (CGD) is a heterogeneous, inherited primary immunodeficiency disease. It is characterized by granulomatous formations due to increased inflammatory response and recurrent and life-threatening infections occurring because of the defects in nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system. Diagnosis is made by medical history, clinical findings, and neutrophil function tests, and is confirmed by genotyping. A 26-year-old male patient presented to our emergency polyclinic with complaints of fever, abdominal pain, diarrhea, fatigue, left ear discharge and was hospitalized in our ward for examination and treatment. Since childhood, he suffered from failure to thrive, frequent pneumonia, and skin pruritus. Since the age of 15 years, he underwent surgery for liver abscess and ear surgery due to ear discharge and chronic otitis. Ultrasonography revealed an abscess on the right psoas muscle, compressing the right kidney. Abscess culture was positive for the methicillin-sensitive strain of Staphylococcus aureus and negative for acid-resistant staining (ARB). Aspergillus spp. reproduced in the ear discharge culture. CGD, which is one of the primary immunodeficiency diseases, should be considered in patients presenting with recurrent intraabdominal abscess and respiratory system infections in adulthood.