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Activating 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.
Ketersediaan
Perpustakaan FK
Nomor Panggil:
N12.K
Non-tandon:
1 (dapat dipinjam: 0)
Tandon:
tidak ada
Lihat Detail Induk
Isi artikel
Monogenic 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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