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

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...

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Detalles Bibliográficos
Autores principales: Minskaia, Ekaterina, Maimaris, Jesmeen, Jenkins, Persephone, Albuquerque, Adriana S., Hong, Ying, Eleftheriou, Despina, Gilmour, Kimberly C., Grace, Richard, Moreira, Fernando, Grimbacher, Bodo, Morris, Emma C., Burns, Siobhan O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10499697/
https://www.ncbi.nlm.nih.gov/pubmed/37316763
http://dx.doi.org/10.1007/s10875-023-01530-7

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