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Br J Haematol. 2019 Nov 11. doi: 10.1111/bjh.16247. [Epub ahead of print]

GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner.

Author information

1
Primary Immunodeficiency Research Lab, Center for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium.
2
Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.
3
Department of Pediatrics, Division of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
4
Department of Hematology, Ghent University Hospital, Ghent, Belgium.
5
Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
6
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
7
Department of Hematology, General Hospital OLV Aalst, Aalst, Belgium.
8
Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, VIB, Ghent, Belgium.
9
Center for Inflammation Research, Laboratory of Immunoregulation, VIB, Ghent, Belgium.
10
Department of Pulmonology, Ghent University Hospital, Ghent, Belgium.
11
Department of Pediatrics, Division of Pediatric Pulmonology, Infectious Diseases and Immunology, Ghent University Hospital, Ghent, Belgium.

Abstract

GATA2 deficiency, first described in 2011, is a bone marrow failure disorder resulting in a complex haematological and immunodeficiency syndrome characterised by cytopenias, severe infections, myelodysplasia and leukaemia. The only curative treatment is allogeneic haematopoietic stem cell transplantation (HSCT). Although knowledge on this syndrome has greatly expanded, in clinical practice many challenges remain. In particular, guidelines on optimal donor and stem cell source and conditioning regimens regarding HSCT are lacking. Additionally, genetic analysis of GATA2 is technically cumbersome and could easily result in false-negative results. With this report, we wish to raise awareness of these pitfalls amongst physicians dealing with haematological malignancies and primary immunodeficiencies.

KEYWORDS:

GATA2 deficiency; graft versus host disease; haematopoietic stem cell transplantation; leukaemia; myelodysplasia

PMID:
31710708
DOI:
10.1111/bjh.16247

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