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

2.50
Hdl Handle:
http://hdl.handle.net/11287/618022
Title:
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Authors:
Flanagan, Sarah; Haapaniemi, E.; Russell, Mark; Caswell, Richard C; Lango Allen, H.; De Franco, Elisa; McDonald, Timothy J. ( 0000-0003-3559-6660 ) ; Rajala, H.; Ramelius, A.; Barton, J.; Heiskanen, K.; Heiskanen-Kosma, T.; Kajosaari, M.; Murphy, N. P.; Milenkovic, T.; Seppänen, M.; Lernmark, Å.; Mustjoki, S.; Otonkoski, T.; Kere, J.; Morgan, N. G.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hattersley, Andrew T.
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.
Citation:
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 2014, 46 (8):812-4 Nat. Genet.
Publisher:
Nature
Journal:
Nature genetics
Issue Date:
Aug-2014
URI:
http://hdl.handle.net/11287/618022
DOI:
10.1038/ng.3040
PubMed ID:
25038750
Additional Links:
http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25038750/
Note:
This article is freely available via PubMed Central. Click on the 'Additional Link' above to access the full-text.
Type:
Journal Article; Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1546-1718
Appears in Collections:
2014 RD&E publications; Diabetes/Endocrine Services; Exeter Clinical Laboratory International (Blood Sciences, Genetics, Cellular Pathology & Microbiology); Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorHaapaniemi, E.en
dc.contributor.authorRussell, Marken
dc.contributor.authorCaswell, Richard Cen
dc.contributor.authorLango Allen, H.en
dc.contributor.authorDe Franco, Elisaen
dc.contributor.authorMcDonald, Timothy J.en
dc.contributor.authorRajala, H.en
dc.contributor.authorRamelius, A.en
dc.contributor.authorBarton, J.en
dc.contributor.authorHeiskanen, K.en
dc.contributor.authorHeiskanen-Kosma, T.en
dc.contributor.authorKajosaari, M.en
dc.contributor.authorMurphy, N. P.en
dc.contributor.authorMilenkovic, T.en
dc.contributor.authorSeppänen, M.en
dc.contributor.authorLernmark, Å.en
dc.contributor.authorMustjoki, S.en
dc.contributor.authorOtonkoski, T.en
dc.contributor.authorKere, J.en
dc.contributor.authorMorgan, N. G.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.date.accessioned2016-08-08T10:24:14Z-
dc.date.available2016-08-08T10:24:14Z-
dc.date.issued2014-08-
dc.identifier.citationActivating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 2014, 46 (8):812-4 Nat. Genet.en
dc.identifier.issn1546-1718-
dc.identifier.pmid25038750-
dc.identifier.doi10.1038/ng.3040-
dc.identifier.urihttp://hdl.handle.net/11287/618022-
dc.description.abstractMonogenic 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.en
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/pmid/25038750/en
dc.rightsArchived with thanks to Nature Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleActivating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.en
dc.typeJournal Articleen
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalNature geneticsen
dc.description.noteThis article is freely available via PubMed Central. Click on the 'Additional Link' above to access the full-text.en
dc.type.versionPublisheden

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