From the Research
This patient likely has chronic granulomatous disease (CGD), a primary immunodeficiency characterized by defective neutrophil function, and should be managed with prophylactic antimicrobials, specifically trimethoprim-sulfamethoxazole and itraconazole, to prevent bacterial and fungal infections. The abnormal dihydrorhodamine flow cytometry confirms the diagnosis, as this test specifically evaluates neutrophils' ability to generate reactive oxygen species during phagocytosis, which is impaired in CGD 1. The clinical history supports this diagnosis with recurrent infections by catalase-positive organisms (S. aureus and Serratia marcescens), which are typical pathogens in CGD patients. Management should include:
- Prophylactic antimicrobials, specifically trimethoprim-sulfamethoxazole (5 mg/kg/day of the trimethoprim component divided twice daily) and itraconazole (5 mg/kg/day) to prevent bacterial and fungal infections, respectively.
- Interferon-gamma (50 μg/m² subcutaneously three times weekly) may also be beneficial in reducing infection frequency.
- Acute infections require prompt, aggressive treatment with appropriate antibiotics based on culture results.
- Long-term care involves regular monitoring for infections, particularly in the lungs, skin, lymph nodes, and liver.
- Hematopoietic stem cell transplantation is the only curative option and should be considered, especially for patients with severe disease manifestations.
- Genetic counseling is important as CGD is typically X-linked recessive, though autosomal recessive forms exist. Early diagnosis and prophylactic treatment significantly improve prognosis by preventing life-threatening infections and inflammatory complications, as supported by the most recent and highest quality study on antibiotic prophylaxis 2.