Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4581888
- author
- Flanagan, Sarah E
; Haapaniemi, Emma
; Russell, Mark A
; Caswell, Richard
; Lango Allen, Hana
; De Franco, Elisa
; McDonald, Timothy J
; Rajala, Hanna
; Ramelius, Anita
LU
; Barton, John
; Heiskanen, Kaarina
; Heiskanen-Kosma, Tarja
; Kajosaari, Merja
; Murphy, Nuala P
; Milenkovic, Tatjana
; Seppänen, Mikko
; Lernmark, Åke
LU
; Mustjoki, Satu
; Otonkoski, Timo
; Kere, Juha
; Morgan, Noel G
; Ellard, Sian
and Hattersley, Andrew T
(Less) - organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 46
- issue
- 8
- pages
- 812 - 814
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:25038750
- wos:000339704400007
- scopus:84905576130
- pmid:25038750
- ISSN
- 1546-1718
- DOI
- 10.1038/ng.3040
- language
- English
- LU publication?
- 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
- 2016-04-01 10:21:42
- date last changed
- 2022-04-20 01:15:45
@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 = {{https://lup.lub.lu.se/search/files/1781328/5364090.pdf}},
doi = {{10.1038/ng.3040}},
volume = {{46}},
year = {{2014}},
}