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Article

STAT3-confusion-of-function: Beyond the loss and gain dualism.

The Journal of allergy and clinical immunology - 1 Nov 2022

Lodi Lorenzo, Faletti Laura Eva, Maccari Maria Elena, Consonni Filippo, Groß Miriam, Pagnini Ilaria, Ricci Silvia, Heeg Maximilian, Simonini Gabriele, Azzari Chiara, Ehl Stephan

Abstract excerpt

BACKGROUND: Germline mutations of signal transducer and activator of transcription 3 (STAT3) are responsible for 2 distinct human diseases: autosomal-dominant hyper-IgE syndrome (AD-HIES) caused by STAT3 loss-of-function mutations and STAT3 gain-of-function disease. So far, these entities have been regarded as antithetic, with AD-HIES mainly associated with characteristic infections and a connective tissue...

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Identifiers

PMID: 35750105
DOI: 10.1016/j.jaci.2022.06.007

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