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Human germline biallelic loss-of-function <i>OSMR</i> variants cause severe allergic disease

2025-08-08

Abstract excerpt

<h4>ABSTRACT</h4> OSMRβ (Oncostatin M receptor beta), a member of the IL-6 superfamily of cell surface receptors, binds OSM and IL-31 and plays a critical role in human immunity. We identified probands from four kindreds with biallelic damaging variants in OSMR , which encodes OSMRβ. Patients had a unifying phenotype for severe widespread, early-onset atopic dermatitis, peripheral eosinophilia, and elevated seru...

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Identifiers and source

Literature Corpus work
b691aa7b-b1c6-5353-b7bd-9ac3dc270bed
DOI
10.1101/2025.08.05.25332527
Open publication

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Human germline biallelic loss-of-function <i>OSMR</i> variants cause severe allergic diseaseDOI 10.1101/2025.08.05.25332527
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