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Erschienen in: Annals of Hematology 10/2018

13.06.2018 | Original Article

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

verfasst von: Alexander Simonis, Michaela Fux, Gayathri Nair, Nicolas J. Mueller, Eugenia Haralambieva, Thomas Pabst, Jana Pachlopnik Schmid, Adrian Schmidt, Urs Schanz, Markus G Manz, Antonia M. S. Müller

Erschienen in: Annals of Hematology | Ausgabe 10/2018

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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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Metadaten
Titel
Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency—a case report and comprehensive review of the literature
verfasst von
Alexander Simonis
Michaela Fux
Gayathri Nair
Nicolas J. Mueller
Eugenia Haralambieva
Thomas Pabst
Jana Pachlopnik Schmid
Adrian Schmidt
Urs Schanz
Markus G Manz
Antonia M. S. Müller
Publikationsdatum
13.06.2018
Verlag
Springer Berlin Heidelberg
Erschienen in
Annals of Hematology / Ausgabe 10/2018
Print ISSN: 0939-5555
Elektronische ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-018-3388-4

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