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Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Monogenic causes of autoimmunity give key insights to the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in 5 individuals with a spectrum of early-onset autoimmune disease including type 1 diabetes....
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129488/ https://www.ncbi.nlm.nih.gov/pubmed/25038750 http://dx.doi.org/10.1038/ng.3040 |
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| 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. |
| author_facet | 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. |
| author_sort | Flanagan, Sarah E. |
| collection | PubMed |
| description | Monogenic causes of autoimmunity give key insights to the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in 5 individuals with a spectrum of early-onset autoimmune disease including type 1 diabetes. These findings emphasise the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in Hyper IgE syndrome. |
| format | Online Article Text |
| id | pubmed-4129488 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-41294882015-02-01 Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease 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. Nat Genet Article Monogenic causes of autoimmunity give key insights to the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in 5 individuals with a spectrum of early-onset autoimmune disease including type 1 diabetes. These findings emphasise the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in Hyper IgE syndrome. 2014-07-20 2014-08 /pmc/articles/PMC4129488/ /pubmed/25038750 http://dx.doi.org/10.1038/ng.3040 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article 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. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease |
| title | Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease |
| title_full | Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease |
| title_fullStr | Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease |
| title_full_unstemmed | Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease |
| title_short | Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease |
| title_sort | activating germline mutations in stat3 cause early-onset multi-organ autoimmune disease |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129488/ https://www.ncbi.nlm.nih.gov/pubmed/25038750 http://dx.doi.org/10.1038/ng.3040 |
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