@article{1512031ce2bd4cd792a604bb703e32e5,
title = "Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function",
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.",
keywords = "JAK inhibitors, JAK-STAT signaling, JAK1, cytokine signaling, inborn errors of immunity, monoallelic expression, mosaicis, precision medicine",
author = "Gruber, {Conor N.} and Calis, {Jorg J.A.} and Sofija Buta and Gilad Evrony and Martin, {Jerome C.} and Uhl, {Skyler A.} and Rachel Caron and Lauren Jarchin and David Dunkin and Robert Phelps and Webb, {Bryn D.} and Saland, {Jeffrey M.} and Miriam Merad and Orange, {Jordan S.} and Mace, {Emily M.} and Rosenberg, {Brad R.} and Gelb, {Bruce D.} and Dusan Bogunovic",
note = "Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",
year = "2020",
month = sep,
day = "15",
doi = "10.1016/j.immuni.2020.07.006",
language = "English",
volume = "53",
pages = "672--684.e11",
journal = "Immunity",
issn = "1074-7613",
publisher = "Cell Press",
number = "3",
}