Hematopoietic stem cell transplant-related thrombotic microangiopathy (HSCT-TMA) is a severe complication whose pathophysiology is unknown. We describe 6 patients in which the disease was associated with complement regulatory gene abnormalities received from their respective donors. It is suggested that mutated and transplanted monocyte-derived cells are responsible for production of abnormal proteins, complement dysregulation, and, ultimately, for the disease. This observation might have important drawbacks as far as HSCT-TMA pathophysiology and treatment are concerned.
- Complement gene mutations
- Hematopoietic stem cell transplantation (HSCT)
- Hemolytic uremic syndrome
- Thrombotic microangiopathy (TMA)
Ardissino, G., Salardi, S., Berra, S., Colussi, G., Cugno, M., Zecca, M., Giglio, F., Peccatori, J., Diral, E., Tel, F., Clivio, A., & Tedeschi, S. (2017). Acquired Complement Regulatory Gene Mutations and Hematopoietic Stem Cell Transplant-Related Thrombotic Microangiopathy. Biology of Blood and Marrow Transplantation, 23(9), 1580-1582. https://doi.org/S1083-8791(17)30460-3 [pii]