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

  • Sarah E Flanagan
  • Emma Haapaniemi
  • Mark A Russell
  • Richard Caswell
  • Hana Lango Allen
  • Elisa De Franco
  • Timothy J McDonald
  • Hanna Rajala
  • Anita Ramelius
  • John Barton
  • Kaarina Heiskanen
  • Tarja Heiskanen-Kosma
  • Merja Kajosaari
  • Nuala P Murphy
  • Tatjana Milenkovic
  • Mikko Seppänen
  • Åke Lernmark
  • Satu Mustjoki
  • Timo Otonkoski
  • Juha Kere
  • Noel G Morgan
  • Sian Ellard
  • Andrew T Hattersley
Publishing year: 2014
Language: English
Pages: 812-814
Publication/Series: Nature Genetics
Volume: 46
Issue: 8
Document type: Journal article
Publisher: Nature Publishing Group

Abstract english

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.


  • Endocrinology and Diabetes


  • Diabetes and Celiac Unit
  • ISSN: 1546-1718
E-mail: anita [dot] ramelius [at] med [dot] lu [dot] se

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