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Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation

21 Dec 2022

Abstract excerpt

Primary atopic disorders are a group of inborn errors of immunity that skew the immune system toward severe allergic disease. Defining the biology underlying these extreme monogenic phenotypes reveals shared mechanisms underlying common polygenic allergic disease and identifies potential drug targets. Germline gain-of-function (GOF) variants in JAK1 are a cause of severe atopy and eosinophilia. Modeling the...

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PMID: 36546480
DOI: 10.1172/jci.insight.150849

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