Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin-Reference-Cited by-同舟云学术

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

Published:2017-08-17 Issue:7 Volume:130 Page:875-880
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Seo Aaron¹²,Ben-Harosh Miri³,Sirin Mehtap⁴,Stein Jerry⁵⁶,Dgany Orly⁶⁷,Kaplelushnik Joseph³,Hoenig Manfred⁴,Pannicke Ulrich⁸,Lorenz Myriam⁸,Schwarz Klaus⁸⁹,Stockklausner Clemens¹⁰,Walsh Tom¹²,Gulsuner Suleyman¹²,Lee Ming K.¹²,Sendamarai Anoop¹¹,Sanchez-Bonilla Marilyn¹²,King Mary-Claire¹²,Cario Holger⁴,Kulozik Andreas E.¹⁰,Debatin Klaus-Michael⁴,Schulz Ansgar⁴,Tamary Hannah⁶⁷¹³,Shimamura Akiko¹²

Affiliation:

1. Department of Genome Sciences and

2. Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA;

3. Department of Pediatric Hematology/Oncology, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel;

4. Department of Pediatrics, University Medical Center Ulm, Ulm, Germany;

5. Bone Marrow Transplant Unit, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel;

6. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;

7. Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Petach Tikva, Israel;

8. Institute for Transfusion Medicine, University Ulm, Ulm, Germany;

9. Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg–Hessen, Ulm, Germany;

10. Department of Pediatric Hematology and Oncology, Heidelberg University, Heidelberg, Germany;

11. Department of Pathology, Boston Children’s Hospital, Boston, MA;

12. Department of Pediatric Hematology/Oncology, Boston Children’s Hospital/Dana-Farber Cancer Institute/Harvard Medical School, Boston, MA; and

13. Hematology Unit, Schneider Children’s Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

Abstract

Key Points Germ line biallelic loss-of-function THPO mutations cause BMF. Marrow failure due to THPO mutations is characterized by poor graft function after transplantation but responds to THPO receptor agonists.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/130/7/875/1366931/blood768036.pdf

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