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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.
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
European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.
Brodszki N, Frazer-Abel A, Grumach AS, Kirschfink M, Litzman J, Perez E, Seppänen MRJ, Sullivan KE, Jolles S. Brodszki N, et al. Among authors: seppanen mrj. J Clin Immunol. 2020 May;40(4):576-591. doi: 10.1007/s10875-020-00754-1. Epub 2020 Feb 17. J Clin Immunol. 2020. PMID: 32064578 Free PMC article.
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen EA, Grönholm J, Öhman T, Pöysti S, Toivonen R, Kreutzman A, Heiskanen K, Trotta L, Toiviainen-Salo S, Routes JM, Verbsky J, Mustjoki S, Saarela J, Kere J, Varjosalo M, Hänninen A, Seppänen MRJ. Tuovinen EA, et al. Among authors: seppanen mrj. J Clin Immunol. 2020 Apr;40(3):503-514. doi: 10.1007/s10875-020-00745-2. Epub 2020 Feb 19. J Clin Immunol. 2020. PMID: 32072341 Free PMC article.
Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.
Gasteiger LM, Robinson PN, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID). Gasteiger LM, et al. Among authors: seppanen mrj. J Allergy Clin Immunol Pract. 2020 May;8(5):1778. doi: 10.1016/j.jaip.2020.02.019. J Allergy Clin Immunol Pract. 2020. PMID: 32389282 Free PMC article. 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: 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.
72 results