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Article

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

14 Jun 2023

Abstract excerpt

The transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator of Th2 (T-helper 2) mediated allergic inflammation via the IL-4 (interleukin-4) JAK (Janus kinase)/STAT signalling pathway. We identified a novel heterozygous germline mutation STAT6 c.1255G > C, p.D419H leading to overactivity of IL-4 JAK/STAT signalling pathway, in a kindred affected by early-onset atopic...

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PMID: 37316763
DOI: 10.1007/s10875-023-01530-7

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