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Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Tuovinen, Elina A; Kuismin, Outi; Soikkonen, Leila; Martelius, Timi; Kaustio, Meri; Hämäläinen, Sari; Viskari, Hanna; Syrjänen, Jaana; Wartiovaara-Kautto, Ulla; Eklund, Kari K; Saarela, Janna; Varjosalo, Markku; Kere, Juha; Hautala, Timo; Seppänen, Mikko R J.
Afiliación
  • Tuovinen EA; Translational Immunology Research Program, University of Helsinki, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.
  • Kuismin O; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland.
  • Soikkonen L; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland.
  • Martelius T; Inflammation Center, Department of Infectious Disease, Helsinki University Hospital, Helsinki, Finland.
  • Kaustio M; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
  • Hämäläinen S; Department of Medicine, Institute of Clinical Medicine/ Internal Medicine, Kuopio University Hospital, Kuopio, Finland.
  • Viskari H; Department of Internal Medicine, Tampere University Hospital, Tampere, Finland; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
  • Syrjänen J; Department of Internal Medicine, Tampere University Hospital, Tampere, Finland; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
  • Wartiovaara-Kautto U; Department of Hematology, Helsinki University Hospital Comprehensive Cancer Center, University of Helsinki, Helsinki, Finland; Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Eklund KK; Department of Rheumatology, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Orton Orthopedic Hospital, Helsinki, Finland.
  • Saarela J; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Centre for Molecular Medicine Norway, University of Oslo, Oslo, Norway.
  • Varjosalo M; Systems Biology Research Group and Proteomics Unit, Institute of Biotechnology, HiLIFE, University of Helsinki, Helsinki, Finland.
  • Kere J; Folkhälsan Research Center, Helsinki, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden; Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland.
  • Hautala T; Research Unit of Biomedicine, University of Oulu, Oulu, Finland; Department of Internal Medicine, Oulu University Hospital, Oulu, Finland.
  • Seppänen MRJ; Translational Immunology Research Program, University of Helsinki, Helsinki, Finland; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland; Rare Diseases Center and Pediatric Research Center, New Children's Hospital, Unive
Clin Immunol ; 246: 109181, 2023 01.
Article en En | MEDLINE | ID: mdl-36356849
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: FN-kappa B / Inmunodeficiencia Variable Común / Síndromes de Inmunodeficiencia Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: FN-kappa B / Inmunodeficiencia Variable Común / Síndromes de Inmunodeficiencia Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Finlandia