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Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

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  • Human germline biallelic loss-of-function OSMR variants cause severe allergic disease

Think of OSMR like the receiver on a fire station’s radio, built to catch a ‘stand down’ signal and tell the sirens to stop. When both copies of the gene are broken, that receiver never gets built right, so the ‘all clear’ message goes out but nothing ever picks it up. The sirens just keep blaring: skin, blood, and immune system stuck in emergency mode from the day a baby’s born. This shows up as severe eczema, an immune system running hot, and allergy markers pinned high.

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