Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

Scientists identified 16 patients from 10 families spanning three continents with a profound phenotype of early-life onset allergic immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia with esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, and anaphylaxis.
[Journal Of Experimental Medicine]
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