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Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Kaustio, Meri; Haapaniemi, Emma; Göös, Helka; Hautala, Timo; Park, Giljun; Syrjänen, Jaana; Einarsdottir, Elisabet; Sahu, Biswajyoti; Kilpinen, Sanna; Rounioja, Samuli; Fogarty, Christopher L; Glumoff, Virpi; Kulmala, Petri; Katayama, Shintaro; Tamene, Fitsum; Trotta, Luca; Morgunova, Ekaterina; Krjutskov, Kaarel; Nurmi, Katariina; Eklund, Kari; Lagerstedt, Anssi; Helminen, Merja; Martelius, Timi; Mustjoki, Satu; Taipale, Jussi; Saarela, Janna; Kere, Juha; Varjosalo, Markku; Seppänen, Mikko.
Afiliação
  • Kaustio M; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
  • Haapaniemi E; Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
  • Göös H; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
  • Hautala T; Department of Internal Medicine, Oulu University Hospital, Oulu, Finland.
  • Park G; Hematology Research Unit Helsinki, Department of Clinical Chemistry and Hematology, University of Helsinki, Helsinki, Finland.
  • Syrjänen J; Department of Internal Medicine, Tampere University Hospital, Tampere, Finland.
  • Einarsdottir E; Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Sahu B; Research Programs Unit, Genome-scale Biology Program, University of Helsinki, Helsinki, Finland.
  • Kilpinen S; Department of Internal Medicine, Jyväskylä Central Hospital, Jyväskylä, Finland.
  • Rounioja S; Fimlab Laboratories, Tampere University Hospital, Tampere, Finland; Tampere Center for Child Health Research, Tampere University Hospital, Tampere, Finland.
  • Fogarty CL; Folkhälsan Institute of Genetics, Helsinki, Finland; Abdominal Center Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Diabetes and Obesity, University of Helsinki, Helsinki, Finland.
  • Glumoff V; Research Unit of Biomedicine, University of Oulu, Oulu, Finland.
  • Kulmala P; Research Unit of Biomedicine, University of Oulu, Oulu, Finland; Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology (PEDEGO) and MRC Oulu, Oulu University Hospital an
  • Katayama S; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
  • Tamene F; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
  • Trotta L; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
  • Morgunova E; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
  • Krjutskov K; Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden; Competence Centre on Health Technologies, Tartu, Estonia.
  • Nurmi K; Department of Rheumatology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Eklund K; Department of Rheumatology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Lagerstedt A; Fimlab Laboratories, Tampere University Hospital, Tampere, Finland.
  • Helminen M; Tampere Center for Child Health Research, Tampere University Hospital, Tampere, Finland.
  • Martelius T; Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Mustjoki S; Hematology Research Unit Helsinki, Department of Clinical Chemistry and Hematology, University of Helsinki, Helsinki, Finland; Comprehensive Cancer Center, Helsinki University Central Hospital, Helsinki, Finland.
  • Taipale J; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
  • Saarela J; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
  • Kere J; Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland. Electronic address: juha.kere@ki.se.
  • Varjosalo M; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
  • Seppänen M; Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Rare Diseases Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
J Allergy Clin Immunol ; 140(3): 782-796, 2017 Sep.
Article em En | MEDLINE | ID: mdl-28115215
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / NF-kappa B / Síndromes de Imunodeficiência Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Finlândia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Autoimunes / NF-kappa B / Síndromes de Imunodeficiência Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Finlândia