Germline mutations in the transcription factor IKZF5 cause thrombocytopenia-Reference-Cited by-同舟云学术

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Published:2019-12-05 Issue:23 Volume:134 Page:2070-2081
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Lentaigne Claire¹²³^ORCID,Greene Daniel³⁴⁵,Sivapalaratnam Suthesh³⁶,Favier Remi⁷⁸,Seyres Denis³⁴⁹,Thys Chantal¹⁰,Grassi Luigi³⁴⁹,Mangles Sarah¹¹^ORCID,Sibson Keith¹²,Stubbs Matthew¹^ORCID,Burden Frances³⁴⁹,Bordet Jean-Claude¹³,Armari-Alla Corinne¹⁴,Erber Wendy³¹⁵¹⁶,Farrow Samantha³⁴⁹,Gleadall Nicholas³⁴^ORCID,Gomez Keith¹⁷^ORCID,Megy Karyn³⁴⁹,Papadia Sofia³⁴⁹^ORCID,Penkett Christopher J.³⁴⁹^ORCID,Sims Matthew C.³^ORCID,Stefanucci Luca³⁴^ORCID,Stephens Jonathan C.³⁴⁹,Read Randy J.¹⁸^ORCID,Stirrups Kathleen E.³⁴⁹^ORCID,Ouwehand Willem H.³⁴⁹¹⁹,Laffan Michael A.¹²^ORCID,Frontini Mattia³⁹²⁰,Freson Kathleen³¹⁰^ORCID,Turro Ernest³⁴⁵⁹^ORCID,

Affiliation:

1. Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, London, United Kingdom;

2. Imperial College Healthcare National Health Service (NHS) Trust, London, United Kingdom;

3. National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom;

4. Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom;

5. Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom;

6. Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;

7. Assistance Publique–Hôpitaux de Paris, French Reference Center for Inherited Platelet Disorders, Armand Trousseau Children’s Hospital, Paris, France;

8. INSERM UMR 1170, Gustave Roussy Institute, Villejuif, France;

9. NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;

10. Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;

11. Department of Haematology, Hampshire Hospitals NHS Foundation Trust, Basingstoke, United Kingdom;

12. Haemophilia, Haemostasis and Thrombosis Centre, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;

13. Hemostasis Laboratory, Biology Center, Hospices Civils de Lyon, Bron, France;

14. Paediatric Oncology Hematology Unit, Michalon Hospital, La Tronche, France;

15. School of Biomedical Science, University of Western Australia, Crawley, WA, Australia;

16. PathWest Laboratory Medicine, Nedlands, WA, Australia;

17. Katharine Dormandy Haemophilia Centre and Thrombosis Unit, The Royal Free Hospital, London, United Kingdom;

18. Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom;

19. Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; and

20. British Heart Foundation Centre of Excellence, Cambridge Biomedical Campus, Cambridge, United Kingdom

Abstract

The authors provide evidence of a novel association between transcription factor IKZF5, one of the IKAROS family proteins, and thrombocytopenia with decreased alpha granules, thus significantly extending our understanding of the gene defects leading to inherited thrombocytopenia.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/134/23/2070/1546482/bloodbld2019000782.pdf

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