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

Gianluigi Ardissino, Stefania Salardi, Silvia Berra, Giacomo Colussi, Massimo Cugno, Marco Zecca, Fabio Giglio, Jacopo Peccatori, Elisa Diral, Francesca Tel, Alberto Clivio, Silvana Tedeschi

Research output: Contribution to journalArticle


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.

Original languageEnglish
Pages (from-to)1580-1582
Number of pages3
JournalBiology of Blood and Marrow Transplantation
Issue number9
Publication statusPublished - Sep 1 2017



  • Complement
  • Complement gene mutations
  • Hematopoietic stem cell transplantation (HSCT)
  • Hemolytic uremic syndrome
  • Thrombotic microangiopathy (TMA)

ASJC Scopus subject areas

  • Hematology
  • Transplantation

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