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Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

Authors
  • Gruber, Conor N.1
  • Calis, Jorg J.A.2, 3, 4
  • Buta, Sofija1
  • Evrony, Gilad5
  • Martin, Jerome C.6, 7, 8, 9
  • Uhl, Skyler A.1
  • Caron, Rachel1
  • Jarchin, Lauren10, 11
  • Dunkin, David10, 11, 12
  • Phelps, Robert13, 14
  • Webb, Bryn D.10, 15, 12
  • Saland, Jeffrey M.10
  • Merad, Miriam6, 7
  • Orange, Jordan S.16
  • Mace, Emily M.16
  • Rosenberg, Brad R.1
  • Gelb, Bruce D.10, 15, 12
  • Bogunovic, Dusan1, 6, 10, 12
  • 1 Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 2 Program in Immunogenomics, The Rockefeller University, New York, NY 10065, USA
  • 3 Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY 10065, USA
  • 4 & Rheumatology, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands
  • 5 Center for Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA
  • 6 Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 7 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 8 Université de Nantes, Inserm, CHU Nantes, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France
  • 9 CHU Nantes, Laboratoire d’Immunologie, Center for Immuno Monitoring Nantes-Atlantique (CIMNA), 44000 Nantes, France
  • 10 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 11 Department of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 12 Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 13 Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 14 Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 15 Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
  • 16 Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY 10032, USA
Type
Published Article
Journal
Immunity
Publication Date
Aug 03, 2020
Volume
53
Issue
3
Pages
672–684
Identifiers
DOI: 10.1016/j.immuni.2020.07.006
PMID: 32750333
PMCID: PMC7398039
Source
PubMed Central
Keywords
Disciplines
  • Article
License
Unknown

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.

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