Annals of Hematology

, Volume 97, Issue 10, pp 1961–1973 | Cite as

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

  • 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. MüllerEmail author
Original Article


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.


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



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

Funding information

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

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

277_2018_3388_MOESM1_ESM.docx (49 kb)
ESM 1 (DOCX 49 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Alexander Simonis
    • 1
  • Michaela Fux
    • 2
  • Gayathri Nair
    • 1
  • Nicolas J. Mueller
    • 3
  • Eugenia Haralambieva
    • 4
  • Thomas Pabst
    • 5
  • Jana Pachlopnik Schmid
    • 6
  • Adrian Schmidt
    • 7
  • Urs Schanz
    • 1
  • Markus G Manz
    • 1
  • Antonia M. S. Müller
    • 1
    Email author
  1. 1.Division of HematologyUniversity and University Hospital ZurichZurichSwitzerland
  2. 2.Center of Laboratory MedicineUniversity Hospital, Inselspital BernBernSwitzerland
  3. 3.Division of Infectious Diseases and Hospital EpidemiologyUniversity and University Hospital ZurichZurichSwitzerland
  4. 4.Department of PathologyUniversity and University Hospital ZurichZurichSwitzerland
  5. 5.Department of Medical OncologyUniversity Hospital, Inselspital BernBernSwitzerland
  6. 6.Pediatric ImmunologyUniversity Children’s Hospital ZurichZurichSwitzerland
  7. 7.Department of Internal Medicine, Division of Medical Oncology and HematologyCity Hospital TriemliZurichSwitzerland

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