Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
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DOI: 10.1016/j.immuni.2020.07.006
Abstract: Summary Autoinflammatory disease can result from monogenic errors of immunity. We describe a patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of-function mutation (S703I) in JAK1, encoding a kinase essential for signaling downstream… read more here.
Keywords: syndrome unveils; complex autoinflammatory; autoinflammatory; unveils fundamental ... See more keywords