Browsing Det medisinske fakultet by Author "Saarela, Janna"

Now showing items 1-5 of 5

  • Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation 
    Hautala, Timo; Chen, Jie; Tervonen, Laura; Partanen, Terhi; Winqvist, Satu; Lehtonen, Johanna; Saarela, Janna; Kraatari, Minna; Kuismin, Outi; Vuorinen, Tytti; Glumoff, Virpi; Åström, Pirjo; Huuskonen, Usko; Lorenzo, Lazaro; Casanova, Jean-Laurent; Zhang, Shen-Ying; Seppänen, Mikko R.J. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
  • Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis 
    Partanen, Terhi; Chen, Jie; Lehtonen, Johanna; Kuismin, Outi; Rusanen, Harri; Vapalahti, Olli; Vaheri, Antti; Anttila, Veli-Jukka; Bode, Michaela; Hautala, Nina; Vuorinen, Tytti; Glumoff, Virpi; Kraatari, Minna; Åström, Pirjo; Saarela, Janna; Kauma, Heikki; Lorenzo, Lazaro; Casanova, Jean-Laurent; Zhang, Shen-Ying; Seppänen, Mikko; Hautala, Timo (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
    Puumala hantavirus (PUUV) hemorrhagic fever with renal syndrome (HFRS) is common in Northern Europe; this infection is usually self-limited and severe complications are uncommon. PUUV and other hantaviruses, however, can ...
  • Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation 
    Hannula-Jouppi, Katariina; Harjama, Liisa; Einarsdottir, Elisabet; Elomaa, Outi; Kettunen, Kaisa; Saarela, Janna; Soronen, Minna; Bouchard, Laura; Lappalainen, Katriina; Heikkilä, Hannele; Kivirikko, Sirpa; Seppänen, Mikko R J; Kere, Juha; Ranki, Annamari (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
  • Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency 
    Tuovinen, Elina A.; Grönholm, Juha; Ohman, 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 (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
    Hypomorphic IL2RG mutations may lead to milder phenotypes than X-SCID, named variably as atypical X-SCID or X-CID. We report an 11-year-old boy with a novel c. 172C>T;p.(Pro58Ser) mutation in IL2RG, presenting with atypical ...
  • Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma 
    Harjama, Liisa; Kettunen, Kaisa; Elomaa, Outi; Einarsdottir, Elisabet; Heikkilä, Hannele; Kivirikko, Sirpa; Lappalainen, Katriina; Saarela, Janna; Alby, Caroline; Ranki, Annamari; Kere, Juha; Hadj-Rabia, Smaïl; Hannula-Jouppi, Katariina (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)