Article

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of <i>JAK1</i> Transcriptional and Biochemical Function

2019-10-17

Abstract excerpt

Autoinflammatory disease can result from monogenic errors of immunity. We describe herein the first example of a patient with early-onset widespread autoinflammation resulting from a mosaic, heterozygous, gain-of-function mutation (S703I) in JAK1 , encoding a kinase essential for signaling downstream of over twenty-five cytokines. By first-of-its-kind custom single-cell RNA sequencing, we examine mosaicism with s...

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Literature Corpus work: e5b05279-add2-5665-8448-afdd01cecdc5
DOI: 10.1101/807669

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