JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

Germline JAK1 gain-of-function mutations cause autosomal dominant immune dysregulation and hypereosinophilia with eosinophilic infiltration of the gastrointestinal tract, massive hepatosplenomegaly and severe atopic dermatitis that can be successfully treated with ruxolitinib, an oral JAK1/2 inhibitor.

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