Abstract:
: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.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Flanagan SE,Haapaniemi E,Russell MA,Caswell R,Allen HL,De Franco E,McDonald TJ,Rajala H,Ramelius A,Barton J,Heiskanen K,Heiskanen-Kosma T,Kajosaari M,Murphy NP,Milenkovic T,Seppänen M,Lernmark Å,Mustjoki S,Otonkoski Tdoi
10.1038/ng.3040subject
Has Abstractpub_date
2014-08-01 00:00:00pages
812-814issue
8eissn
1061-4036issn
1546-1718journal_volume
46pub_type
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