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

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.

Afiliação

Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.
Haapaniemi E; Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
Russell MA; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.
Allen HL; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.
De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.
McDonald TJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.
Rajala H; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.
Ramelius A; Hematology Research Unit Helsinki, Department of Hematology, University of Helsinki.
Barton J; Helsinki University Central Hospital Cancer Center, Helsinki, Finland.
Heiskanen K; Department of Clinical Sciences, Lund University, Lund, Sweden.
Heiskanen-Kosma T; CRC, Skåne University Hospital SUS, Malmö, Sweden.
Kajosaari M; Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, BS2 8BJ, UK.
Murphy NP; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Milenkovic T; Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.
Seppänen M; Department of Pediatrics, Kuopio University Hospital, Helsinki, Finland.
Lernmark Å; Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.
Mustjoki S; Department of Diabetes and Endocrinology, Children's University Hospital, Temple St., Dublin 1, Ireland.
Otonkoski T; Department of Endocrinology, Institute for Mother and Child Health Care of Serbia 'Dr Vukan Cupic', Belgrade, Serbia.
Kere J; Immunodeficiency Unit, Division of Infectious Diseases, Helsinki University Central Hospital, Helsinki, Finland.
Morgan NG; Department of Clinical Sciences, Lund University, Lund, Sweden.
Ellard S; CRC, Skåne University Hospital SUS, Malmö, Sweden.
Hattersley AT; Hematology Research Unit Helsinki, Department of Hematology, University of Helsinki.

Nat Genet ; 46(8): 812-814, 2014 Aug.

Article em En | MEDLINE | ID: mdl-25038750

RESUMO

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.

Assuntos

Doenças Autoimunes/genética; Mutação em Linhagem Germinativa; Fator de Transcrição STAT3/genética; Sequência de Aminoácidos; Linhagem Celular; Predisposição Genética para Doença; Células HEK293; Humanos; Síndrome de Job/genética; Dados de Sequência Molecular; Homologia de Sequência de Aminoácidos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / Mutação em Linhagem Germinativa / Fator de Transcrição STAT3 Limite: Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article

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