Erythropoiesis defect observed in STAT3 GOF patients with severe anemia

Andrea A Mauracher; Julia J M Eekels; Janine Woytschak; Audrey van Drogen; Alessandra Bosch; Seraina Prader; Matthias Felber; Maximillian Heeg; Lennart Opitz; Johannes Trück; Silke Schroeder; Eva Adank; Adam Klocperk; Eugenia Haralambieva; Dieter Zimmermann; Sofia Tantou; Kosmas Kotsonis; Aikaterini Stergiou; Maria G Kanariou; Stephan Ehl; Onur Boyman; Anna Sediva; Raffaele Renella; Markus Schmugge; Stefano Vavassori; Jana Pachlopnik Schmid

doi:10.1016/j.jaci.2019.11.042

Erythropoiesis defect observed in STAT3 GOF patients with severe anemia

J Allergy Clin Immunol. 2020 Apr;145(4):1297-1301. doi: 10.1016/j.jaci.2019.11.042. Epub 2019 Dec 17.

Authors

Andrea A Mauracher¹, Julia J M Eekels², Janine Woytschak³, Audrey van Drogen⁴, Alessandra Bosch², Seraina Prader¹, Matthias Felber⁵, Maximillian Heeg⁶, Lennart Opitz⁷, Johannes Trück⁸, Silke Schroeder⁹, Eva Adank⁹, Adam Klocperk¹⁰, Eugenia Haralambieva¹¹, Dieter Zimmermann¹¹, Sofia Tantou¹², Kosmas Kotsonis¹², Aikaterini Stergiou¹², Maria G Kanariou¹², Stephan Ehl⁶, Onur Boyman³, Anna Sediva¹⁰, Raffaele Renella¹³, Markus Schmugge², Stefano Vavassori¹, Jana Pachlopnik Schmid¹⁴

Affiliations

¹ Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
² Division of Haematology, University Children's Hospital Zurich, Zurich, Switzerland.
³ Department of Immunology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
⁴ Institute of Molecular Systems Biology, ETH Zurich, Zurich, Switzerland.
⁵ Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; Division of Haematology, University Children's Hospital Zurich, Zurich, Switzerland.
⁶ Institute of Immunodeficiency and Center for Chronic Immunodeficiency, University Medical Center, Freiburg, Germany.
⁷ Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; Functional Genomics Center Zürich, University of Zurich, ETH Zurich, Zurich, Switzerland.
⁸ Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich, Zurich, Switzerland.
⁹ Division of Rheumatology, University Children's Hospital Zurich, Zurich, Switzerland.
¹⁰ Department of Immunology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
¹¹ Department of Pathology University and University Hospital Zurich, Zurich, Switzerland.
¹² First Department of Paediatrics, Aghia Sophia Children's Hospital, Athens, Greece.
¹³ Pediatric Hematology-Oncology Unit, Division of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.
¹⁴ Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich, Zurich, Switzerland. Electronic address: jana.pachlopnikr@kispi.uzh.ch.

PMID: 31857100
DOI: 10.1016/j.jaci.2019.11.042

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Anemia, Hemolytic, Autoimmune / drug therapy
Anemia, Hemolytic, Autoimmune / genetics*
Asthma / genetics*
Cell Differentiation
Cell Proliferation
Cells, Cultured
Child
Erythrocytes / physiology*
Erythropoiesis / genetics
Erythropoietin / metabolism
Exome Sequencing
Gene Expression Regulation
Germ-Line Mutation / genetics*
Humans
Iron Chelating Agents / therapeutic use
Receptors, Erythropoietin / metabolism
STAT3 Transcription Factor / genetics*
STAT5 Transcription Factor / metabolism
Severity of Illness Index
Signal Transduction
beta-Globins / genetics
beta-Globins / isolation & purification

Substances

Iron Chelating Agents
Receptors, Erythropoietin
STAT3 Transcription Factor
STAT5 Transcription Factor
beta-Globins
Erythropoietin