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

Flanagan, Sarah E; Haapaniemi, Emma; Russell, Mark A; Caswell, Richard; Lango Allen, Hana; De Franco, Elisa; McDonald, Timothy J; Rajala, Hanna; Ramelius, Anita LU and Barton, John, et al. (2014) In Nature Genetics 46(8). p.812-814
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.
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Contribution to journal
publication status
published
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Nature Genetics
volume
46
issue
8
pages
812 - 814
publisher
Nature Publishing Group
external identifiers
  • pmid:25038750
  • wos:000339704400007
  • scopus:84905576130
ISSN
1546-1718
DOI
10.1038/ng.3040
language
English
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yes
id
cdb73d90-8d5e-4300-8ce1-65d1f876cce7 (old id 4581888)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/25038750?dopt=Abstract
date added to LUP
2014-08-08 17:49:17
date last changed
2017-10-01 03:13:29
@article{cdb73d90-8d5e-4300-8ce1-65d1f876cce7,
  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.},
  author       = {Flanagan, Sarah E and Haapaniemi, Emma and Russell, Mark A and Caswell, Richard and Lango Allen, Hana and De Franco, Elisa and McDonald, Timothy J and Rajala, Hanna and Ramelius, Anita and Barton, John and Heiskanen, Kaarina and Heiskanen-Kosma, Tarja and Kajosaari, Merja and Murphy, Nuala P and Milenkovic, Tatjana and Seppänen, Mikko and Lernmark, Åke and Mustjoki, Satu and Otonkoski, Timo and Kere, Juha and Morgan, Noel G and Ellard, Sian and Hattersley, Andrew T},
  issn         = {1546-1718},
  language     = {eng},
  number       = {8},
  pages        = {812--814},
  publisher    = {Nature Publishing Group},
  series       = {Nature Genetics},
  title        = {Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.},
  url          = {http://dx.doi.org/10.1038/ng.3040},
  volume       = {46},
  year         = {2014},
}