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

Simonis, Alexander; Fux, Michaela; Nair, Gayathri; Mueller, Nicolas J; Haralambieva, Eugenia; Pabst Müller, Thomas Niklaus; Pachlopnik Schmid, Jana; Schmidt, Adrian; Schanz, Urs; Manz, Markus G; Müller, Antonia M S (2018). Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency-a case report and comprehensive review of the literature. Annals of hematology, 97(10), pp. 1961-1973. Springer-Verlag 10.1007/s00277-018-3388-4

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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.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Medical Oncology

UniBE Contributor:

Fux, Michaela and Pabst Müller, Thomas Niklaus

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0939-5555

Publisher:

Springer-Verlag

Language:

English

Submitter:

Rebeka Gerber

Date Deposited:

06 Feb 2019 14:38

Last Modified:

25 Oct 2019 16:55

Publisher DOI:

10.1007/s00277-018-3388-4

PubMed ID:

29947977

Uncontrolled Keywords:

Allogeneic hematopoietic cell transplantation GATA2 deficiency Immune reconstitution inflammatory syndrome Myelodysplastic syndrome

BORIS DOI:

10.7892/boris.123997

URI:

https://boris.unibe.ch/id/eprint/123997

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