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Case Reports
. 2017 Sep;23(9):1580-1582.
doi: 10.1016/j.bbmt.2017.05.013. Epub 2017 May 15.

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

Gianluigi Ardissino  1 , Stefania Salardi  2 , Silvia Berra  3 , Giacomo Colussi  4 , Massimo Cugno  5 , Marco Zecca  6 , Fabio Giglio  7 , Jacopo Peccatori  7 , Elisa Diral  8 , Francesca Tel  9 , Alberto Clivio  3 , Silvana Tedeschi  2
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Free article
Case Reports

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

Gianluigi Ardissino et al. Biol Blood Marrow Transplant. 2017 Sep.
Free article

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.

Keywords: Complement; Complement gene mutations; Hematopoietic stem cell transplantation (HSCT); Hemolytic uremic syndrome; Thrombotic microangiopathy (TMA).

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Comment in

  • Unraveling the Genetics of Transplant-Associated Thrombotic Microangiopathy: Lessons to be Learned.
    Gavriilaki E, Sakellari I, Mallouri D, Batsis I, Yannaki E, Anagnostopoulos A. Gavriilaki E, et al. Biol Blood Marrow Transplant. 2017 Nov;23(11):2013-2014. doi: 10.1016/j.bbmt.2017.07.018. Epub 2017 Jul 26. Biol Blood Marrow Transplant. 2017. PMID: 28756242 No abstract available.
  • Response.
    Ardissino G, Tedeschi S, Zecca M, Berra S, Colussi G, Giglio F, Terruzzi E, Cugno M. Ardissino G, et al. Biol Blood Marrow Transplant. 2017 Nov;23(11):2014-2015. doi: 10.1016/j.bbmt.2017.07.017. Epub 2017 Aug 15. Biol Blood Marrow Transplant. 2017. PMID: 28821453 No abstract available.

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