Show simple item record

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

dc.contributor.authorFlanagan, SE
dc.contributor.authorHaapaniemi, E
dc.contributor.authorRussell, Mark A.
dc.contributor.authorCaswell, Richard
dc.contributor.authorLango Allen, H
dc.contributor.authorDe Franco, E
dc.contributor.authorMcDonald, TJ
dc.contributor.authorRajala, H
dc.contributor.authorRamelius, A
dc.contributor.authorBarton, J
dc.contributor.authorHeiskanen, Kaarina
dc.contributor.authorHeiskanen-Kosma, Tarja
dc.contributor.authorKajosaari, M
dc.contributor.authorMurphy, NP
dc.contributor.authorMilenkovic, T
dc.contributor.authorSeppänen, M
dc.contributor.authorLernmark, Å
dc.contributor.authorMustjoki, S
dc.contributor.authorOtonkoski, T
dc.contributor.authorKere, J
dc.contributor.authorMorgan, Noel G.
dc.contributor.authorEllard, Sian
dc.contributor.authorHattersley, Andrew T.
dc.date.accessioned2015-03-13T09:39:43Z
dc.date.issued2014-08
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_GB
dc.description.sponsorshipNIHRen_GB
dc.description.sponsorshipWellcome Trusten_GB
dc.description.sponsorshipDiabetes UKen_GB
dc.description.sponsorshipFinnish Medical Foundationen_GB
dc.identifier.citationNature Genetics, 2014, Vol. 46, Issue 8, pp. 812 - 814en_GB
dc.identifier.doi10.1038/ng.3040
dc.identifier.grantnumber098395en_GB
dc.identifier.grantnumberNF-SI-0611-10219en_GB
dc.identifier.urihttp://hdl.handle.net/10871/16524
dc.language.isoenen_GB
dc.publisherNature Publishing Groupen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/25038750en_GB
dc.rights© 2014 Nature America, Inc. All rights reserved.en_GB
dc.subjectAmino Acid Sequenceen_GB
dc.subjectAutoimmune Diseasesen_GB
dc.subjectCell Lineen_GB
dc.subjectGenetic Predisposition to Diseaseen_GB
dc.subjectGerm-Line Mutationen_GB
dc.subjectHEK293 Cellsen_GB
dc.subjectHumansen_GB
dc.subjectJob Syndromeen_GB
dc.subjectMolecular Sequence Dataen_GB
dc.subjectSTAT3 Transcription Factoren_GB
dc.subjectSequence Homology, Amino Aciden_GB
dc.titleActivating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.en_GB
dc.typeArticleen_GB
dc.date.available2015-03-13T09:39:43Z
dc.identifier.issn1061-4036
exeter.place-of-publicationUnited States
dc.descriptionThis is the peer reviewed version of the article, which has been published in final form at doi: 10.1038/ng.3040.en_GB
dc.identifier.journalNature Geneticsen_GB


Files in this item

Name:
Flanagan_Manuscript final_R1.docx
Size:
77.10Kb
Format:
Microsoft Word 2007
View/Open
Name:
Flanagan_Supplementary Informa ...
Size:
1.195Mb
Format:
Microsoft Word
View/Open

This item appears in the following Collection(s)

Show simple item record