Browsing Høstingsarkiver by Author "Åström, Pirjo"

Now showing items 1-4 of 4

  • 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 ...
  • Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis 
    Santaniemi, Wenny; Åström, Pirjo; Glumoff, Virpi; Pernaa, Nora; Tallgren, Ella-Noora; Palosaari, Sanna; Nissinen, Antti; Kaustio, Meri; Kuismin, Outi; Saarela, Janna Saija; Nurmi, Katariina; Eklund, Kari K.; Seppänen, Mikko R. J.; Hautala, Timo (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)
    Abstract Loss-of-function (LOF) mutations in NFKB1 , coding for p105, may cause common variable immunodeficiency due to dysregulation of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κΒ) pathway. ...
  • Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction 
    Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Åström, Pirjo; Mamia, Katariina Aino Inkeri; Pernaa, Nora; Lehtonen, Johanna Marianna; Glumoff, Virpi; Rahikkala, Elisa; Honkila, Minna; Olsén, Päivi; Hassinen, Antti; Polso, Minttu; Al Sukati, Nashat; Al Shekaili, Jalila; Al Kindi, Mahmood; Al Hashmi, Nadia; Almusa, Henrikki; Bulanova, Daria; Haapaniemi, Emma Maria; Chen, Pu; Suo-Palosaari, Maria; Vieira, Paivi; Tuominen, Hannu; Kokkonen, Hannaleena; Al Macki, Nabil; Al Habsi, Huda; Löppönen, Tuija; Rantala, Heikki; Pietiäinen, Vilja; Zhang, Shen-Ying; Renko, Marjo; Hautala, Timo; Al Farsi, Tariq; Uusimaa, Johanna; Saarela, Janna Saija (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)
    Background Homozygous loss of DIAPH1 results in seizures, cortical blindness, and microcephaly syndrome (SCBMS). We studied 5 Finnish and 2 Omani patients with loss of DIAPH1 presenting with SCBMS, mitochondrial ...