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Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen, Elina A; Grönholm, Juha; Öhman, Tiina; Pöysti, Sakari; Toivonen, Raine; Kreutzman, Anna; Heiskanen, Kaarina; Trotta, Luca; Toiviainen-Salo, Sanna; Routes, John M; Verbsky, James; Mustjoki, Satu; Saarela, Janna; Kere, Juha; Varjosalo, Markku; Hänninen, Arno; Seppänen, Mikko R J.
Afiliação
  • Tuovinen EA; Folkhälsan Research Center, Helsinki, Finland.
  • Grönholm J; Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.
  • Öhman T; Rare Diseases Center and Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.
  • Pöysti S; Translational Immunology Research Program, University of Helsinki, Helsinki, Finland. juha.gronholm@helsinki.fi.
  • Toivonen R; Rare Diseases Center and Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland. juha.gronholm@helsinki.fi.
  • Kreutzman A; Systems Biology Research Group and Proteomics Unit, Institute of Biotechnology, HiLIFE, University of Helsinki, Helsinki, Finland.
  • Heiskanen K; Department of Clinical Microbiology and Immunology, Turku University Hospital and Institute of Biomedicine, University of Turku, Turku, Finland.
  • Trotta L; Department of Clinical Microbiology and Immunology, Turku University Hospital and Institute of Biomedicine, University of Turku, Turku, Finland.
  • Toiviainen-Salo S; Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.
  • Routes JM; Hematology Research Unit Helsinki, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Finland.
  • Verbsky J; Rare Diseases Center and Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.
  • Mustjoki S; Institute for Molecular Medicine Finland, HiLIFE, University of Helsinki, Helsinki, Finland.
  • Saarela J; Department of Pediatric Radiology, HUS Medical Imaging Center, Radiology, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.
  • Kere J; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Varjosalo M; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Hänninen A; Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.
  • Seppänen MRJ; Hematology Research Unit Helsinki, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Finland.
J Clin Immunol ; 40(3): 503-514, 2020 04.
Article em En | MEDLINE | ID: mdl-32072341
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células Dendríticas / Linfócitos / Receptores de Interleucina-2 / Complexos Multiproteicos / Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X / Subunidade gama Comum de Receptores de Interleucina / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Finlândia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células Dendríticas / Linfócitos / Receptores de Interleucina-2 / Complexos Multiproteicos / Doenças por Imunodeficiência Combinada Ligada ao Cromossomo X / Subunidade gama Comum de Receptores de Interleucina / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Finlândia