Article

Autosomal dominant STAT6 gain of function causes severe atopy associated with lymphoma

2022-10-12

Abstract excerpt

<title>Abstract</title> <p>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 <italic>STAT6</italic> c.1255G > C, p.D419H leading to overactivity of IL-4 JAK/STAT signalling pathway, in a...

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Identifiers and source

Literature Corpus work: f863aefe-e46a-55d1-986e-2031a4d5303d
DOI: 10.21203/rs.3.rs-2116300/v1

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