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Hereditary Predispositions to Myelodysplastic Syndrome
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Immune Mechanisms in Myelodysplastic Syndrome

Epi-/Genome Laboratory, Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark
Section for Immunology and Vaccinology, National Veterinary Institute, Technical University of Denmark, Frederiksberg 1870, Denmark
Jane Anne Nohl Division of Hematology, USC Norris Comprehensive Cancer Center, Los Angeles, CA 90033, USA
Stand up to Cancer Epigenetics Dream Team, Van Andel Research Institute, Grand Rapids, MI 49503, USA
Author to whom correspondence should be addressed.
Academic Editor: Vivienne Rebel
Int. J. Mol. Sci. 2016, 17(6), 944;
Received: 4 May 2016 / Revised: 31 May 2016 / Accepted: 8 June 2016 / Published: 15 June 2016
(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Myelodysplastic Syndrome)
Myelodysplastic syndrome (MDS) is a spectrum of diseases, characterized by debilitating cytopenias and a propensity of developing acute myeloid leukemia. Comprehensive sequencing efforts have revealed a range of mutations characteristic, but not specific, of MDS. Epidemiologically, autoimmune diseases are common in patients with MDS, fueling hypotheses of common etiological mechanisms. Both innate and adaptive immune pathways are overly active in the hematopoietic niche of MDS. Although supportive care, growth factors, and hypomethylating agents are the mainstay of MDS treatment, some patients—especially younger low-risk patients with HLA-DR15 tissue type—demonstrate impressive response rates after immunosuppressive therapy. This is in contrast to higher-risk MDS patients, where several immune activating treatments, such as immune checkpoint inhibitors, are in the pipeline. Thus, the dual role of immune mechanisms in MDS is challenging, and rigorous translational studies are needed to establish the value of immune manipulation as a treatment of MDS. View Full-Text
Keywords: myelodysplastic syndrome; autoimmunity; adaptive immunity; innate immunity; Pancytopenia myelodysplastic syndrome; autoimmunity; adaptive immunity; innate immunity; Pancytopenia
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MDPI and ACS Style

Glenthøj, A.; Ørskov, A.D.; Hansen, J.W.; Hadrup, S.R.; O’Connell, C.; Grønbæk, K. Immune Mechanisms in Myelodysplastic Syndrome. Int. J. Mol. Sci. 2016, 17, 944.

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