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Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Haapaniemi, Emma M; Kaustio, Meri; Rajala, Hanna L M; van Adrichem, Arjan J; Kainulainen, Leena; Glumoff, Virpi; Doffinger, Rainer; Kuusanmäki, Heikki; Heiskanen-Kosma, Tarja; Trotta, Luca; Chiang, Samuel; Kulmala, Petri; Eldfors, Samuli; Katainen, Riku; Siitonen, Sanna; Karjalainen-Lindsberg, Marja-Liisa; Kovanen, Panu E; Otonkoski, Timo; Porkka, Kimmo; Heiskanen, Kaarina; Hänninen, Arno; Bryceson, Yenan T; Uusitalo-Seppälä, Raija; Saarela, Janna; Seppänen, Mikko; Mustjoki, Satu; Kere, Juha.
Affiliation
  • Haapaniemi EM; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology, and.
  • Kaustio M; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland;
  • Rajala HL; Hematology Research Unit Helsinki, Department of Hematology, University of Helsinki and Helsinki University Central Hospital Cancer Center, Helsinki, Finland;
  • van Adrichem AJ; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland;
  • Kainulainen L; Department of Pediatrics and Department of Medicine, Turku University Hospital, Turku, Finland;
  • Glumoff V; Department of Medical Microbiology and Immunology, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland;
  • Doffinger R; Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital and National Institute for Health Research, Cambridge Biomedical Research Center, Cambridge, United Kingdom;
  • Kuusanmäki H; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland;
  • Heiskanen-Kosma T; Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland;
  • Trotta L; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland;
  • Chiang S; Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden;
  • Kulmala P; Department of Medical Microbiology and Immunology, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland; Department of Pediatrics, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland;
  • Eldfors S; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland;
  • Katainen R; Department of Medical Genetics, Genome-Scale Biology Research Program, Institute of Biomedicine, University of Helsinki, Helsinki, Finland;
  • Siitonen S; Laboratory Services (Hospital District of Helsinki and Uusimaa Laboratory).
  • Karjalainen-Lindsberg ML; Laboratory Services (Hospital District of Helsinki and Uusimaa Laboratory).
  • Kovanen PE; Department of Pathology, and.
  • Otonkoski T; Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland;
  • Porkka K; Hematology Research Unit Helsinki, Department of Hematology, University of Helsinki and Helsinki University Central Hospital Cancer Center, Helsinki, Finland;
  • Heiskanen K; Children's Hospital, Helsinki University Central Hospital, Helsinki, Finland.
  • Hänninen A; Department of Medical Microbiology and Immunology, University of Turku, Turku, Finland;
  • Bryceson YT; Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden;
  • Uusitalo-Seppälä R; Department of Infectious Diseases, Satakunta Central Hospital, Pori, Finland;
  • Saarela J; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland;
  • Seppänen M; Immunodeficiency Unit, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland; and.
  • Mustjoki S; Hematology Research Unit Helsinki, Department of Hematology, University of Helsinki and Helsinki University Central Hospital Cancer Center, Helsinki, Finland;
  • Kere J; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology, and Department of Biosciences and Nutrition, and Center for Innovative Medicine, Karolinska Institutet, Stockholm, Sweden.
Blood ; 125(4): 639-48, 2015 Jan 22.
Article in En | MEDLINE | ID: mdl-25349174

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoimmune Diseases / Mutation, Missense / Agammaglobulinemia / STAT3 Transcription Factor / Leukemia, Large Granular Lymphocytic / Genetic Diseases, Inborn / Mycobacterium Infections Language: En Journal: Blood Year: 2015 Document type: Article Country of publication: Estados Unidos

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoimmune Diseases / Mutation, Missense / Agammaglobulinemia / STAT3 Transcription Factor / Leukemia, Large Granular Lymphocytic / Genetic Diseases, Inborn / Mycobacterium Infections Language: En Journal: Blood Year: 2015 Document type: Article Country of publication: Estados Unidos