Article

De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression

2024-04-18

Abstract excerpt

<title>Abstract</title> Background STAT3 Gain-of-Function (GOF) syndrome characterized by early onset autoimmunity and primary immune regulatory disorder, the immunological mechanisms remain poorly understood. Employing whole-genome sequencing within familial trios, our study elucidated the pivotal role of de novo mutations in genetic diseases. Results We identified 37 high-risk pathogenic loci affecting 23 ge...

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Literature Corpus work: 64097b78-ecb9-525b-852b-cbd902fd2325
DOI: 10.21203/rs.3.rs-4181172/v1

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