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Page 1
Tonsillar granuloma associated with hypogammaglobulinemia.
Laajala A, Kuismin O, Tastula M, Tiitto L, Kauppila S, Salo A, Åström P, Nissinen A, Glumoff V, Seppänen MRJ, Hautala T. Laajala A, et al. Among authors: seppanen mrj. Allergy Asthma Clin Immunol. 2020 May 29;16:43. doi: 10.1186/s13223-020-00441-1. eCollection 2020. Allergy Asthma Clin Immunol. 2020. PMID: 32514274 Free PMC article.
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: seppanen mrj. 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.
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
Hautala T, Vähäsalo P, Kuismin O, Keskitalo S, Rajamäki K, Väänänen A, Simojoki M, Säily M, Pelkonen I, Tokola H, Mäkinen M, Kaarteenaho R, Jartti A, Hautala N, Kantola S, Jackson P, Glumoff V, Saarela J, Varjosalo M, Eklund KK, Seppänen MRJ. Hautala T, et al. Among authors: seppanen mrj. J Clin Rheumatol. 2021 Dec 1;27(8):e583-e587. doi: 10.1097/RHU.0000000000001268. J Clin Rheumatol. 2021. PMID: 31977656
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. Among authors: seppanen mrj. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation.
Hautala T, Chen J, Tervonen L, Partanen T, Winqvist S, Lehtonen J, Saarela J, Kraatari M, Kuismin O, Vuorinen T, Glumoff V, Åström P, Huuskonen U, Lorenzo L, Casanova JL, Zhang SY, Seppänen MRJ. Hautala T, et al. Among authors: seppanen mrj. Neurol Genet. 2020 Nov 25;6(6):e532. doi: 10.1212/NXG.0000000000000532. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33294619 Free PMC article. No abstract available.
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.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ Maccari ME, et al. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.
Nurmi K, Silventoinen K, Keskitalo S, Rajamäki K, Kouri VP, Kinnunen M, Jalil S, Maldonado R, Wartiovaara K, Nievas EI, Denita-Juárez SP, Duncan CJA, Kuismin O, Saarela J, Romo I, Martelius T, Parantainen J, Beklen A, Bilicka M, Matikainen S, Nordström DC, Kaustio M, Wartiovaara-Kautto U, Kilpivaara O, Klein C, Hauck F, Jahkola T, Hautala T, Varjosalo M, Barreto G, Seppänen MRJ, Eklund KK. Nurmi K, et al. Among authors: seppanen mrj. Cell Rep Med. 2024 Apr 16;5(4):101503. doi: 10.1016/j.xcrm.2024.101503. Epub 2024 Apr 8. Cell Rep Med. 2024. PMID: 38593810 Free PMC article.
72 results