Background
Chronic granulomatous disease is an inherited primary immune deficiency characterized by recurrent infections and increased susceptibility to autoimmunity and dysregulated inflammatory response. The prognosis of the disease has been improved by early diagnosis and reduced intensity stem cell transplantation.
Case reportAn 11-month-old boy was referred to this department with hepatosplenomegaly and recurrent fever of unknown origin. The first febrile episode occurred at 4 months of age and reoccurred at 5, 8 and 11 months of age. He was the first born child of non-consanguineous German parents. Ultrasound revealed an abdominal conglomerate of lymph nodes which led to the suspicion of phagocytic cell dysfunction. The immunological workup revealed chronic granulomatous disease. The patient was successfully treated with intravenous antibiotics for 6 weeks and an early reduced intensity stem cell transplantation was recommended, which was successfully carried out at 14 months of age without any complications.
Conclusion
Elective stem cell transplantation is the only curative therapy for chronic granulomatous disease and should be strongly recommended for every newly diagnosed patient before the occurrence of major complications if a fully 10/10 HLA-matched donor is available.