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Search: onr:"swepub:oai:lup.lub.lu.se:cdb73d90-8d5e-4300-8ce1-65d1f876cce7" > Activating germline...

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  • Flanagan, Sarah E (author)

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

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2014-07-20
  • Springer Science and Business Media LLC,2014
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:cdb73d90-8d5e-4300-8ce1-65d1f876cce7
  • https://lup.lub.lu.se/record/4581888URI
  • https://doi.org/10.1038/ng.3040DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:129508643URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Haapaniemi, Emma (author)
  • Russell, Mark A (author)
  • Caswell, Richard (author)
  • Lango Allen, Hana (author)
  • De Franco, Elisa (author)
  • McDonald, Timothy J (author)
  • Rajala, Hanna (author)
  • Ramelius, AnitaLund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups(Swepub:lu)endo-ani (author)
  • Barton, John (author)
  • Heiskanen, Kaarina (author)
  • Heiskanen-Kosma, Tarja (author)
  • Kajosaari, Merja (author)
  • Murphy, Nuala P (author)
  • Milenkovic, Tatjana (author)
  • Seppänen, Mikko (author)
  • Lernmark, ÅkeLund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups(Swepub:lu)endo-ale (author)
  • Mustjoki, Satu (author)
  • Otonkoski, Timo (author)
  • Kere, JuhaKarolinska Institutet (author)
  • Morgan, Noel G (author)
  • Ellard, Sian (author)
  • Hattersley, Andrew T (author)
  • Celiaki och diabetesForskargrupper vid Lunds universitet (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC46:8, s. 812-8141546-17181061-4036

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