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

Nature genetics, 2014-08, Vol.46 (8), p.812-814 [Peer Reviewed Journal]

Copyright Nature Publishing Group Aug 2014 ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3040 ;PMID: 25038750

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Title:
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Author: Flanagan, Sarah E ; Haapaniemi, Emma ; Russell, Mark A ; Caswell, Richard ; Allen, Hana Lango ; De Franco, Elisa ; McDonald, Timothy J ; Rajala, Hanna ; Ramelius, Anita ; Barton, John ; Heiskanen, Kaarina ; Heiskanen-Kosma, Tarja ; Kajosaari, Merja ; Murphy, Nuala P ; Milenkovic, Tatjana ; Seppänen, Mikko ; Lernmark, Åke ; Mustjoki, Satu ; Otonkoski, Timo ; Kere, Juha ; Morgan, Noel G ; Ellard, Sian ; Hattersley, Andrew T
Subjects: Amino Acid Sequence ; Autoimmune diseases ; Autoimmune Diseases - genetics ; Cell Line ; Clinical Medicine ; Cytokines ; Deoxyribonucleic acid ; Diabetes ; Disease ; DNA ; Endocrinology and Diabetes ; Endokrinologi och diabetes ; Genetic Predisposition to Disease ; Genetic testing ; Genomes ; Germ-Line Mutation ; HEK293 Cells ; Humans ; Hypothyroidism ; Immune system ; Job Syndrome - genetics ; Klinisk medicin ; Lymphocytes ; Medical and Health Sciences ; Medical research ; Medicin och hälsovetenskap ; Molecular Sequence Data ; Mutation ; Rheumatoid arthritis ; Sequence Homology, Amino Acid ; STAT3 Transcription Factor - genetics ; Studies
Is Part Of: Nature genetics, 2014-08, Vol.46 (8), p.812-814
Description: 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.
Publisher: United States: Nature Publishing Group
Language: English
Identifier: ISSN: 1061-4036
ISSN: 1546-1718
EISSN: 1546-1718
DOI: 10.1038/ng.3040
PMID: 25038750
Source: GFMER Free Medical Journals
MEDLINE
SWEPUB Freely available online
ProQuest Central

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

Copyright Nature Publishing Group Aug 2014 ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3040 ;PMID: 25038750

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