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Nat Genet. 2014 Aug;46(8):812-814. doi: 10.1038/ng.3040. Epub 2014 Jul 20.

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

Author information

1
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.
2
Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
3
Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
4
Hematology Research Unit Helsinki, Department of Hematology, University of Helsinki.
5
Helsinki University Central Hospital Cancer Center, Helsinki, Finland.
6
Department of Clinical Sciences, Lund University, Lund, Sweden.
7
CRC, Skåne University Hospital SUS, Malmö, Sweden.
8
Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8BJ, UK.
9
Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.
10
Department of Pediatrics, Kuopio University Hospital, Helsinki, Finland.
11
Department of Diabetes and Endocrinology, Children's University Hospital, Temple St., Dublin 1, Ireland.
12
Department of Endocrinology, Institute for Mother and Child Health Care of Serbia 'Dr Vukan Cupic', Belgrade, Serbia.
13
Immunodeficiency Unit, Division of Infectious Diseases, Helsinki University Central Hospital, Helsinki, Finland.
14
Department of Biosciences and Nutrition, Karolinska Institutet, Hälsovägen 7, 14183 Huddinge, Sweden.
15
Center for Innovative Medicine, Karolinska Institutet, Hälsovägen 7, 14183 Huddinge, Sweden.
#
Contributed equally

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.

PMID:
25038750
PMCID:
PMC4129488
DOI:
10.1038/ng.3040
[Indexed for MEDLINE]
Free PMC Article

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