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.

Acquired Complement Regulatory Gene Mutations and Hematopoietic Stem Cell Transplant-Related Thrombotic Microangiopathy / G. Ardissino, S. Salardi, S. Berra, G. Colussi, M. Cugno, M. Zecca, F. Giglio, J. Peccatori, E. Diral, F. Tel, A. Clivio, S. Tedeschi. - In: BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION. - ISSN 1083-8791. - 23:9(2017 Oct), pp. 1580-1596.

Acquired Complement Regulatory Gene Mutations and Hematopoietic Stem Cell Transplant-Related Thrombotic Microangiopathy

S. Berra;M. Cugno;TEL, FRANCESCA;A. Clivio;
2017-10

Abstract

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; Complement gene mutations; Hematopoietic stem cell transplantation (HSCT); Hemolytic uremic syndrome; Thrombotic microangiopathy (TMA)
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/513018
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