Homozygous calreticulin mutations in patients with myelofibrosis lead to acquired myeloperoxidase deficiency

Author:

Theocharides Alexandre P. A.1ORCID,Lundberg Pontus2,Lakkaraju Asvin K. K.3,Lysenko Veronika1,Myburgh Renier1,Aguzzi Adriano3,Skoda Radek C.2,Manz Markus G.1

Affiliation:

1. Division of Hematology, University Hospital Zurich and University of Zurich, Zurich, Switzerland;

2. Department of Biomedicine, Experimental Hematology, University Hospital Basel and University of Basel, Basel, Switzerland; and

3. Institute of Neuropathology, University Hospital Zurich and University of Zurich, Zurich, Switzerland

Abstract

Key Points Acquired MPO deficiency in patients with MPN is uniquely associated with homozygous CALR mutations. In line with a posttranscriptional defect, MPO deficiency results from reduced MPO protein levels, but not from decreased MPO mRNA.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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