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Bone marrow transplantation in chronic granulomatous disease
M C Calviño1, M S Maldonado, E Otheo
1Servicio de pediatría, Hospital Ramón y Cajal, Madrid, Spain.
Insights
Bone marrow transplantation offers a potential cure for severe X-linked chronic granulomatous disease (CGD) when standard prophylaxis is not possible. This case demonstrates successful engraftment and long-term health in a young CGD patient.
Area of Science:
- Immunology
- Hematology
- Pediatrics
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder.
- X-linked CGD is the most common form, characterized by defective phagocyte function.
- Standard prophylactic therapies like trimethoprim-sulfamethoxazole can be contraindicated due to hypersensitivity.
Unlabelled:
We present a 5-year-old boy with a severe form of X-linked chronic granulomatous disease and hypersensitivity to sulphamides preventing prophylaxis with trimethoprim-sulphomethoxazole. Bone marrow transplantation was performed after preconditioning with busulphan and cyclophosphamide. The immediate post-transplant period was without complications. Complete chimerism was demonstrated and post-transplant oxidative metabolism was normal. The patient is asymptomatic 30 months after the graft.
Conclusion:
Bone marrow transplantation in cases of chronic granulomatous disease is controversial, although it could be useful in selected very severe cases in which prophylactic therapy is problematic.