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.
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
  • 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
  • Whole Exome Sequencing
  • beta-Globins / genetics
  • beta-Globins / isolation & purification

Substances

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