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Comment
. 2020 Sep 15;53(3):481-484.
doi: 10.1016/j.immuni.2020.08.010.

Of Mosaicism and Mechanisms: How JAK1 Goes Awry

Sarah H Ross  1 , Doreen A Cantrell  2
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Of Mosaicism and Mechanisms: How JAK1 Goes Awry

Sarah H Ross et al. Immunity. .
Free article

Abstract

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.

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