A novel JAK1 mutation identified in a patient with severe atopic dermatitis phenotype: Mechanistic insights and IL-4Rα targeted therapy.

doi:10.1016/j.clim.2026.110742

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Article

A novel JAK1 mutation identified in a patient with severe atopic dermatitis phenotype: Mechanistic insights and IL-4Rα targeted therapy.

Clinical immunology (Orlando, Fla.) - 1 Oct 2026

Zhu Yutong, Yan Shi, Zhou Xiaoying, Bai Xiaoming, Yang Liuqing, Xiao Yizhu, Yang Huan, Luo Xiaoyan, Wang Hua, Jiang Jinqiu

Abstract excerpt

JAK1 gain-of-function (GoF) mutations were considered ultra-rare causes of immune dysregulation, but recent studies suggest a broader clinical spectrum. We report the first Chinese case of a novel likely JAK1 GoF mutation (p.L783F) in a child with early-onset severe atopic dermatitis, eosinophilia, elevated IgE, and growth retardation. Functional assays showed enhanced IL-6-induced STAT1 phosphorylation among...

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