Genetic & Genomic MedicineThe Journal of Experimental MedicinePeer-reviewed
Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease
Mehul Sharma, Daniel Leung, Mana Momenilandi…·Stuart E. Turvey
This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.
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