Browsing Det medisinske fakultet by Author "Ohman, Tiina"

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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; 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 ...