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Page 1
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
Santaniemi W, Åström P, Glumoff V, Pernaa N, Tallgren EN, Palosaari S, Nissinen A, Kaustio M, Kuismin O, Saarela J, Nurmi K, Eklund KK, Seppänen MRJ, Hautala T. Santaniemi W, et al. Among authors: pernaa n. J Clin Immunol. 2023 Jul;43(5):1007-1018. doi: 10.1007/s10875-023-01461-3. Epub 2023 Mar 9. J Clin Immunol. 2023. PMID: 36892687 Free PMC article.
Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.
Pernaa N, Keskitalo S, Chowdhury I, Nissinen A, Glumoff V, Keski-Filppula R, Junttila J, Eklund KK, Santaniemi W, Siitonen S, Seppänen MR, Vähäsalo P, Varjosalo M, Åström P, Hautala T. Pernaa N, et al. Front Immunol. 2022 Nov 18;13:819929. doi: 10.3389/fimmu.2022.819929. eCollection 2022. Front Immunol. 2022. PMID: 36466816 Free PMC article.
CD40LG Triplication Associates with Immune Dysregulation and Exhaustion.
Santaniemi W, Pernaa N, Glumoff V, Hautala T; CD40L consortium. Santaniemi W, et al. Among authors: pernaa n. J Clin Immunol. 2023 Feb;43(2):323-326. doi: 10.1007/s10875-022-01392-5. Epub 2022 Nov 8. J Clin Immunol. 2023. PMID: 36346498 No abstract available.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J. Kaustio M, et al. Among authors: pernaa n. J Allergy Clin Immunol. 2021 Aug;148(2):599-611. doi: 10.1016/j.jaci.2020.12.656. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662367 Free article. Clinical Trial.