Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Monogenic causes of autoimmunity give key insights to the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in 5 individuals with a spectrum of early-onset autoimmune disease including type 1 diabetes....

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Detalles Bibliográficos
Autores principales: Flanagan, Sarah E., Haapaniemi, Emma, Russell, Mark A., Caswell, Richard, Allen, Hana Lango, De Franco, Elisa, McDonald, Timothy J., Rajala, Hanna, Ramelius, Anita, Barton, John, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Kajosaari, Merja, Murphy, Nuala P., Milenkovic, Tatjana, Seppänen, Mikko, Lernmark, Åke, Mustjoki, Satu, Otonkoski, Timo, Kere, Juha, Morgan, Noel G., Ellard, Sian, Hattersley, Andrew T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129488/
https://www.ncbi.nlm.nih.gov/pubmed/25038750
http://dx.doi.org/10.1038/ng.3040
Descripción
Sumario:Monogenic causes of autoimmunity give key insights to the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in 5 individuals with a spectrum of early-onset autoimmune disease including type 1 diabetes. These findings emphasise the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in Hyper IgE syndrome.

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