Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Article Details
- CitationCopy to clipboard
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Lango Allen H, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppanen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Nat Genet. 2014 Aug;46(8):812-4. doi: 10.1038/ng.3040. Epub 2014 Jul 20.
- PubMed ID
- 25038750 [ View in PubMed]
- 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.