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Young woman with mi...
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation
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- Lübking, Anna (författare)
- Lund University,Lunds universitet,Stamcellscentrum (SCC),Avdelningen för stamcellsforskning,Institutionen för laboratoriemedicin,Medicinska fakulteten,Stem Cell Center,Division of stem cell research,Department of Laboratory Medicine,Faculty of Medicine,Department of Hematology and Vascular Disorders, Skåne University Hospital, Lund, Sweden
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- Vosberg, Sebastian (författare)
- Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany; German Cancer Consortium (DKTK), Heidelberg, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany
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- Konstandin, Nicola (författare)
- Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany
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- Dufour, Annika (författare)
- Department of Hematology and Vascular Disorders, Skåne University Hospital, Lund, Sweden
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- Graf, Alexander (författare)
- Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany
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- Krebs, Stefan (författare)
- Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany
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- Blum, Helmut (författare)
- Laboratory for Functional Genome Analysis at the Gene Center, Ludwig-Maximilians-Universität (LMU), Munich, Germany; German Cancer Consortium (DKTK), Heidelberg, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany
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- Weber, Axel (författare)
- Institut für Humangenetik, Universitätsklinikum Giessen und Marburg/Standort Giessen, Germany
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- Lenhoff, Stig (författare)
- Lund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Institut für Humangenetik, Universitätsklinikum Giessen und Marburg/Standort Giessen, Germany
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- Ehinger, Mats (författare)
- Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Department of Pathology, Skåne University Hospital, Lund, Sweden
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- Spiekermann, Karsten (författare)
- Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany; German Cancer Consortium (DKTK), Heidelberg, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany
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- Greif, Philip (författare)
- Department of Internal Medicine 3, Ludwig-Maximilians-Universität (LMU), Munich, Germany; German Cancer Consortium (DKTK), Heidelberg, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany
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- Cammenga, Jörg (författare)
- Lund University,Lunds universitet,Avdelningen för molekylärmedicin och genterapi,Institutionen för laboratoriemedicin,Medicinska fakulteten,Stamcellscentrum (SCC),Avdelningen för stamcellsforskning,Division of Molecular Medicine and Gene Therapy,Department of Laboratory Medicine,Faculty of Medicine,Stem Cell Center,Division of stem cell research,Department of Hematology and Vascular Disorders, Skåne University Hospital, Lund, Sweden; Department of Molecular Medicine and Gene Therapy, Lund University, BMC A12, Lund, Sweden
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(creator_code:org_t)
- Elsevier, 2015
- 2015
- Engelska.
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Ingår i: Leukemia Research Reports. - : Elsevier. - 2213-0489. ; 4:2, s. 72-75
- Relaterad länk:
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https://liu.diva-por... (primary) (Raw object)
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https://doi.org/10.1...
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http://www.ncbi.nlm....
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Ämnesord
Stäng
- 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. © 2015.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Nyckelord
- GATA2 mutation; Myelodysplastic syndrome; ASXL1 mutation; Allogeneic hematopoietic stem cell transplantation
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
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Lübking, Anna
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Vosberg, Sebasti ...
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Konstandin, Nico ...
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Dufour, Annika
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Graf, Alexander
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Krebs, Stefan
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visa fler...
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Blum, Helmut
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Weber, Axel
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Lenhoff, Stig
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Ehinger, Mats
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Spiekermann, Kar ...
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Greif, Philip
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Cammenga, Jörg
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Leukemia Researc ...
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