Abstract

Monogenic errors of the Janus kinase (JAK) family, essential signal transduction hubs of the immune system, have dire consequences in immune function. Gruber et al. describe a JAK1 gain-of-function mutation with mosaicism and monoallelic expression that underlies a multi-system autoinflammatory disease, which is rescued by JAK inhibitor therapy.

Original languageEnglish
Pages (from-to)672-684.e11
JournalImmunity
Volume53
Issue number3
DOIs
StatePublished - 15 Sep 2020

Keywords

  • JAK inhibitors
  • JAK-STAT signaling
  • JAK1
  • cytokine signaling
  • inborn errors of immunity
  • monoallelic expression
  • mosaicis
  • precision medicine

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