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74 results

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Page 1
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: hautala t. 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.
A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors.
Schultheiß C, Paschold L, Mohebiany AN, Escher M, Kattimani YM, Müller M, Schmidt-Barbo P, Mensa-Vilaró A, Aróstegui JI, Boursier G, de Moreuil C, Hautala T, Willscher E, Jonas H, Chinchuluun N, Grosser B, Märkl B, Klapper W, Oommen PT, Gössling K, Hoffmann K, Tiegs G, Czernilofsky F, Dietrich S, Freeman A, Schwartz DM, Waisman A, Aksentijevich I, Binder M. Schultheiß C, et al. Among authors: hautala t. Sci Adv. 2024 Aug 23;10(34):eadl3975. doi: 10.1126/sciadv.adl3975. Epub 2024 Aug 21. Sci Adv. 2024. PMID: 39167656 Free PMC article.
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: hautala t. 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.
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: hautala t. 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.
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Tuovinen EA, Kuismin O, Soikkonen L, Martelius T, Kaustio M, Hämäläinen S, Viskari H, Syrjänen J, Wartiovaara-Kautto U, Eklund KK, Saarela J, Varjosalo M, Kere J, Hautala T, Seppänen MRJ. Tuovinen EA, et al. Among authors: hautala t. Clin Immunol. 2023 Jan;246:109181. doi: 10.1016/j.clim.2022.109181. Epub 2022 Nov 8. Clin Immunol. 2023. PMID: 36356849 Free 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: hautala t. 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.
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: hautala t. 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.
74 results