Article
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Immunity - 15 Sept 2020
Gruber Conor N, Calis Jorg J A, Buta Sofija, Evrony Gilad, Martin Jerome C, Uhl Skyler A, Caron Rachel, Jarchin Lauren, Dunkin David, Phelps Robert, Webb Bryn D, Saland Jeffrey M, Merad Miriam, Orange Jordan S, Mace Emily M, Rosenberg Brad R, Gelb Bruce D, Bogunovic Dusan
Abstract excerpt
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 of >25 cytokines. By custom single-cell RNA sequencing, we examine mosaicism with single-cell resolution. We find that JAK1 transcription was...
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