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Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Kaustio M, Haapaniemi E, Göös H, Hautala T, Park G, Syrjänen J, Einarsdottir E, Sahu B, Kilpinen S, Rounioja S, Fogarty CL, Glumoff V, Kulmala P, Katayama S, Tamene F, Trotta L, Morgunova E, Krjutškov K, Nurmi K, Eklund K, Lagerstedt A, Helminen M, Martelius T, Mustjoki S, Taipale J, Saarela J, Kere J, Varjosalo M, Seppänen M. Kaustio M, et al. Among authors: glumoff v. J Allergy Clin Immunol. 2017 Sep;140(3):782-796. doi: 10.1016/j.jaci.2016.10.054. Epub 2017 Jan 21. J Allergy Clin Immunol. 2017. PMID: 28115215
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Haapaniemi EM, Kaustio M, Rajala HL, van Adrichem AJ, Kainulainen L, Glumoff V, Doffinger R, Kuusanmäki H, Heiskanen-Kosma T, Trotta L, Chiang S, Kulmala P, Eldfors S, Katainen R, Siitonen S, Karjalainen-Lindsberg ML, Kovanen PE, Otonkoski T, Porkka K, Heiskanen K, Hänninen A, Bryceson YT, Uusitalo-Seppälä R, Saarela J, Seppänen M, Mustjoki S, Kere J. Haapaniemi EM, et al. Among authors: glumoff v. Blood. 2015 Jan 22;125(4):639-48. doi: 10.1182/blood-2014-04-570101. Epub 2014 Oct 27. Blood. 2015. PMID: 25349174 Free PMC article. Clinical Trial.
Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.
Hautala TJ, Perelygina L, Vuorinen T, Hautala NM, Hägg PM, Bode MK, Rusanen HT, Renko MH, Glumoff V, Schwab N, Schneider-Hohendorf T, Murk JL, Sullivan KE, Seppänen MRJ. Hautala TJ, et al. Among authors: glumoff v. J Clin Immunol. 2018 Jan;38(1):4-6. doi: 10.1007/s10875-017-0463-x. Epub 2017 Nov 20. J Clin Immunol. 2018. PMID: 29159786 Free PMC article. No abstract available.
Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation.
Rajamäki K, Keskitalo S, Seppänen M, Kuismin O, Vähäsalo P, Trotta L, Väänänen A, Glumoff V, Keskitalo P, Kaarteenaho R, Jartti A, Hautala N, Jackson P, Nordström DC, Saarela J, Hautala T, Eklund KK, Varjosalo M. Rajamäki K, et al. Among authors: glumoff v. RMD Open. 2018 Oct 17;4(2):e000740. doi: 10.1136/rmdopen-2018-000740. eCollection 2018. RMD Open. 2018. PMID: 30402268 Free PMC article.
60 results