Clinical and genetic characteristics in Chronic Granulomatous Disease

Reference: Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease

Journal: International Archives of Allergy and Immunology

Summary: 1. 32 CGD patients from a single center in Turkey were evaluated retrospectively to study clinical, immunological and genetic characteristics

                    2. 18/32 were X linked CGD, AR patients were assessed using GeneScan and PCR amplification.  A residual ROS was also observed in NCF1 CGD

                   3. Median age at onset was 8 months in all patients. Pneumonia, lymphadenitis, skin abscess and otitis media were common clinical manifestations and S. aureus, Aspergillus fumigatus and M. tuberculosis were the common organisms isolated

                   4. Anemia, failure to thrive, lymadenopathy and aphthous stomatitis  were common non-infectious features

                  5. All patients were on Co-trimoxazole and Itraconazole prophylaxis, 3 expired during follow up and 4 patients successfully underwent HSCT

Bottom line: X-CGD present earlier in life and residual ROS in AR-CGD may delay the diagnosis