The evolution of cellular deficiency in GATA2 mutation-Reference-Cited by-同舟云学术

The evolution of cellular deficiency in GATA2 mutation

Published:2014-02-06 Issue:6 Volume:123 Page:863-874
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Dickinson Rachel E.¹,Milne Paul¹,Jardine Laura¹,Zandi Sasan²,Swierczek Sabina I.³,McGovern Naomi¹,Cookson Sharon¹,Ferozepurwalla Zaveyna¹,Langridge Alexander¹,Pagan Sarah¹,Gennery Andrew¹,Heiskanen-Kosma Tarja⁴,Hämäläinen Sari⁴,Seppänen Mikko⁵,Helbert Matthew⁶,Tholouli Eleni⁷,Gambineri Eleonora⁸,Reykdal Sigrún⁹,Gottfreðsson Magnús⁹,Thaventhiran James E.¹⁰,Morris Emma¹¹,Hirschfield Gideon¹²,Richter Alex G.¹³,Jolles Stephen¹⁴,Bacon Chris M.¹⁵,Hambleton Sophie¹,Haniffa Muzlifah¹,Bryceson Yenan¹⁶,Allen Carl¹⁷,Prchal Josef T.³,Dick John E.²,Bigley Venetia¹,Collin Matthew¹

Affiliation:

1. Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;

2. Princess Margaret Cancer Centre, University Health Network, Toronto, and Department of Molecular Genetics, University of Toronto, Toronto, Canada;

3. Division of Hematology, School of Medicine, University of Utah, Salt Lake City, UT;

4. Department of Paediatrics, Kuopio University Hospital, Kuopio, Finland;

5. Division of Infectious Diseases, Helsinki University Central Hospital, Helsinki, Finland;

6. Department of Clinical Immunology and

7. Department of Haematology, Central Manchester University Hospitals, Manchester, United Kingdom;

8. University of Florence, Department of “NEUROFARBA”: Section of Child's Health/“Anna Meyer” Children's Hospital, Department of Haematology-Oncology, Florence, Italy;

9. Faculty of Medicine, School of Health Sciences, University of Iceland and Department of Infectious Diseases, Landspitali University Hospital, Reykjavik, Iceland;

10. Cambridge Institute for Medical Research, Cambridge, United Kingdom;

11. UCL Institute of Immunity and Transplantation, University College, London, United Kingdom;

12. Department of Hepatology and

13. Department of Clinical Immunology, University Hospital of Birmingham, Birmingham, United Kingdom;

14. Department of Immunology, University Hospital of Wales, Cardiff, United Kingdom;

15. Northern Centre for Cancer Research, Newcastle University, Newcastle upon Tyne, United Kingdom;

16. Centre for Infectious Medicine, Karolinska Institute, Stockholm, Sweden; and

17. Department of Pediatrics, Texas Children’s Cancer Center, Houston, TX

Abstract

Key Points Diverse patient groups with GATA2 mutation develop mononuclear cytopenia and elevated Flt3 ligand. Progressive cytopenias, rising Flt3 ligand, and terminal differentiation of lymphoid cells accompany clinical progression.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/123/6/863/1378978/863.pdf

Reference54 articles.

1. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.;Bigley;J Exp Med,2011

2. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.;Dickinson;Blood,2011

3. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.;Vinh;Blood,2010

4. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.;Hsu;Blood,2011

5. GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.;Hsu;Blood,2013

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