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ArtikelActivating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease  
Oleh: Flanagan, Sarah E ; Haapaniemi, Emma ; Russell, Mark A ; Caswell, Richard ; Allen, Hana Lango
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 46 no. 08 (Aug. 2014), page 812 - 814.
Topik: STAT3; hyper IgE syndrome.
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    • Nomor Panggil: N12.K
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Isi artikelMonogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize 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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