Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.

Research output: Contribution to journalArticle


Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, deafness and myelodysplasia (Emberger syndrome) and familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML). Onset and severity of clinical symptoms vary and preceding cytopenias are not always present. We describe a case of symptomatic DCML deficiency and rather discrete bone marrow findings due to GATA2 mutation. Exome sequencing revealed a somatic ASXL1 mutation and the patient underwent allogeneic stem cell transplantation successfully.


  • Anna Lübking
  • Sebastian Vosberg
  • Nikola P Konstandin
  • Annika Dufour
  • Alexander Graf
  • Stefan Krebs
  • Helmut Blum
  • Axel Weber
  • Stig Lenhoff
  • Mats Ehinger
  • Karsten Spiekermann
  • Philipp A Greif
  • Jörg Cammenga
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Hematology
Original languageEnglish
Pages (from-to)72-75
JournalLeukemia Research Reports
Issue number2
Publication statusPublished - 2015
Publication categoryResearch