Diagnosis of Chronic Granulomatous Disease (CGD) in Adults

RATIONALE: CGD is a Primary Immunodeficiency due to a genetic defect of the oxidative pathway (NADPH oxidase) in phagocytes. It is characterized by infections and abscesses (mainly by Staphilococcus and Aspergillus) presenting in paediatric age. Some patients reach adult age undiagnosed. We comment the diagnosis of CGD in 4 adults with different inheritance patterns (2 X-linked, 2 Autosomal Recessive) and 2 symptomatic carriers. METHODS: Flow Cytometry (FCM) studies using Dihidrorhodamine were performed to these patients referred to our Unit under suspicion of CGD. Patient 1: Male, history of multiple infections, admitted to hospital for severe pneumonia at the age of 26. Patient 2: Male, 30-years-old, history of infections, brother of patient 1. Patient 3: Female, 16-years-old, diagnosed of perianal abscess, cutaneous discoid lupus and pneumonia. Patient 4: Female, 22-years-old, with repeated adenitis by Pseudomona caepacia; urinary and recurrent respiratory tract infections. Patient 5: Female, 30-years-old, with a history of pneumoniae, Salmonella infection and Serratia lymphadenitis. Patient 6: Female, diagnosed of cutaneous lupus, mother of a boy with XL-CGD. Mutation analysis were performed to all the patients. RESULTS: In all the 6 cases FCM was diagnostic and known CGD mutations were found. CONCLUSIONS: CGD should be suspected in adults with recurrent infections. Diagnosis by FCM is very reliable and allows the identification of XL-carriers. Symptomatic carriers may also need prophylactic therapy. This disease is underdiagnosed, especially if the symptomatology is not severe.