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

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 singl...

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Veröffentlicht in:	Immunity (Cambridge, Mass.) Mass.), 2020-09, Vol.53 (3), p.672-684.e11
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age Binding sites Biopsy Catalytic Domain Catalytic Domain - genetics Cell Line COVID-19 COVID-19 - mortality cytokine signaling Cytokines Cytokines - metabolism Disease Endoscopy Female Gain of Function Mutation Gain of Function Mutation - genetics Gene sequencing Genomes Genotype Genotypes HEK293 Cells Hereditary Autoinflammatory Diseases Hereditary Autoinflammatory Diseases - drug therapy Hereditary Autoinflammatory Diseases - genetics Hereditary Autoinflammatory Diseases - pathology Humans Immunology inborn errors of immunity Inflammatory diseases JAK inhibitors JAK-STAT signaling JAK1 Janus kinase Janus Kinase 1 Janus Kinase 1 - antagonists & inhibitors Janus Kinase 1 - genetics Kinases Life Sciences monoallelic expression mosaicis Mosaicism Mutation Phosphorylation Piperidines Piperidines - therapeutic use Precision Medicine Precision Medicine - methods Pyrimidines Pyrimidines - therapeutic use Ribonucleic acid RNA Signal Transduction Signal Transduction - immunology Signaling Systemic Inflammatory Response Syndrome Systemic Inflammatory Response Syndrome - drug therapy Systemic Inflammatory Response Syndrome - genetics Systemic Inflammatory Response Syndrome - pathology Transcription
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