Of Mosaicism and Mechanisms: How JAK1 Goes Awry

Sarah Ross, Doreen Cantrell (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

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Personalized medicines require understanding the molecular causes of disease. In this issue of Immunity, Gruber et al. reveal that a gain-of-function JAK1 genetic variant results in a mutant protein with mosaic expression that drives multi-organ immune dysregulation via kinase dependent and independent mechanisms. The work highlights how biochemistry can inform therapies to resolve complex immune disorders.

Original languageEnglish
Pages (from-to)481-484
Number of pages4
Issue number3
Early online date15 Sept 2020
Publication statusPublished - Nov 2020

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Infectious Diseases


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