Human germline biallelic loss-of-function OSMR variants cause severe allergic disease
Authors:
- Simran SamraSSSimran Samra
- Mehul SharmaMehul Sharma
- Julia KörholzJulia Körholz
- Yihui LiuYLYihui Liu
- Alyssa JamesAJAlyssa James
- Christina MichalskiChristina Michalski
- Pariya YousefiPYPariya Yousefi
- Kate L. Del BelKBKate L. Del Bel
- Henry Y. LuHLHenry Y. Lu
- Ashish A. SharmaAshish A. Sharma
- Maja Tarailo-GraovacMaja Tarailo-Graovac
- Joshua DalmannJDJoshua Dalmann
Open Access
- 28 May 2026
- journal article
- Vol. 2 (4)
Abstract
Samra, Sharma, et al. identify biallelic loss-of-function variants in OSMR as the cause of a new human primary atopic disorder characterized by severe early-onset eczema, eosinophilia, and elevated IgE. Loss of OSMRβ surface expression abolishes OSM-dependent STAT signaling, revealing a key role for OSM-OSMR signaling in maintaining cutaneous immune homeostasis.Keywords
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