Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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

Lübking, Anna LU ; Vosberg, Sebastian ; Konstandin, Nikola P ; Dufour, Annika ; Graf, Alexander ; Krebs, Stefan ; Blum, Helmut ; Weber, Axel ; Lenhoff, Stig LU and Ehinger, Mats LU , et al. (2015) In Leukemia Research Reports 4(2). p.72-75
Abstract
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.
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; ; ; and (Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Leukemia Research Reports
volume
4
issue
2
pages
72 - 75
publisher
Elsevier
external identifiers
  • pmid:26716079
  • scopus:84945266216
  • pmid:26716079
ISSN
2213-0489
DOI
10.1016/j.lrr.2015.10.001
language
English
LU publication?
yes
id
a8d6e74a-c59c-4fee-9e5d-c75c4e33f567 (old id 8500210)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26716079?dopt=Abstract
date added to LUP
2016-04-04 09:30:05
date last changed
2022-05-01 17:43:01
@article{a8d6e74a-c59c-4fee-9e5d-c75c4e33f567,
  abstract     = {{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.}},
  author       = {{Lübking, Anna and Vosberg, Sebastian and Konstandin, Nikola P and Dufour, Annika and Graf, Alexander and Krebs, Stefan and Blum, Helmut and Weber, Axel and Lenhoff, Stig and Ehinger, Mats and Spiekermann, Karsten and Greif, Philipp A and Cammenga, Jörg}},
  issn         = {{2213-0489}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{72--75}},
  publisher    = {{Elsevier}},
  series       = {{Leukemia Research Reports}},
  title        = {{Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.}},
  url          = {{http://dx.doi.org/10.1016/j.lrr.2015.10.001}},
  doi          = {{10.1016/j.lrr.2015.10.001}},
  volume       = {{4}},
  year         = {{2015}},
}