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Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency—a case report and comprehensive review of the literature

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Abstract

Recently, an immunodeficiency syndrome caused by guanine-adenine-thymine-adenine 2 (GATA2) deficiency has been described. The syndrome is characterized by (i) typical onset in early adulthood, (ii) profound peripheral blood cytopenias of monocytes, B lymphocytes, and NK cells, (iii) distinct susceptibility to disseminated non-tuberculous mycobacterial (NTM) and other opportunistic infections (particularly human papillomavirus), and (iv) a high risk of developing hematologic malignancies (myelodysplastic syndromes (MDS); acute myeloid leukemias (AML)). Considerable clinical heterogeneity exists among patients with GATA2 deficiency, but once infectious symptoms occur or MDS/AML arises, survival declines significantly. Allogeneic hematopoietic cell transplantation (HCT) currently provides the only curative treatment option for both MDS/AML and dysfunctional immunity with life-threatening opportunistic infections. Strategies regarding timing of allogeneic HCT, antimicrobial prophylaxis and treatment, intensity of the preparative regimen, and optimal donor and graft source have not been clearly defined due to the rarity of the disease. Here, we provide a comprehensive analysis of the available literature and published case reports on the use of allogeneic HCT in patients with GATA2 deficiency. In addition, a case of a young woman with GATA2 deficiency, who developed an immune reconstitution inflammatory syndrome in her mycobacterial skin lesions post allogeneic HCT is presented and illustrates distinct problems encountered in this disease context.

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Acknowledgements

We are grateful to the patient, whose case is presented here for her willingness to share her medical history and images for publication.

Funding

A.S. is supported by a research fellowship of the Hanne Liebermann Foundation. A.M. is supported by the Promedica Foundation.

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Authors and Affiliations

  1. Division of Hematology, University and University Hospital Zurich, Raemistrasse 100, CH-8091, Zurich, Switzerland

    Alexander Simonis, Gayathri Nair, Urs Schanz, Markus G Manz & Antonia M. S. Müller

  2. Center of Laboratory Medicine, University Hospital, Inselspital Bern, CH-3010, Bern, Switzerland

    Michaela Fux

  3. Division of Infectious Diseases and Hospital Epidemiology, University and University Hospital Zurich, Raemistrasse 100, CH-8091, Zurich, Switzerland

    Nicolas J. Mueller

  4. Department of Pathology, University and University Hospital Zurich, Raemistrasse 100, CH-8091, Zurich, Switzerland

    Eugenia Haralambieva

  5. Department of Medical Oncology, University Hospital, Inselspital Bern, CH-3010, Bern, Switzerland

    Thomas Pabst

  6. Pediatric Immunology, University Children’s Hospital Zurich, Steinwiesstrasse 75, CH-8032, Zurich, Switzerland

    Jana Pachlopnik Schmid

  7. Department of Internal Medicine, Division of Medical Oncology and Hematology, City Hospital Triemli, Birmensdorferstrasse 497, CH-8063, Zurich, Switzerland

    Adrian Schmidt

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Simonis, A., Fux, M., Nair, G. et al. Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency—a case report and comprehensive review of the literature. Ann Hematol 97, 1961–1973 (2018). https://doi.org/10.1007/s00277-018-3388-4

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