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Page 1
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
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.
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.
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Tangye SG, et al. Among authors: seppanen mrj. J Clin Immunol. 2021 Apr;41(3):666-679. doi: 10.1007/s10875-021-00980-1. Epub 2021 Feb 18. J Clin Immunol. 2021. PMID: 33598806 Free PMC article. Review.
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Tangye SG, et al. Among authors: seppanen mrj. J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24. J Clin Immunol. 2022. PMID: 35748970 Free PMC article.
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Bousfiha A, et al. Among authors: seppanen mrj. J Clin Immunol. 2022 Oct;42(7):1508-1520. doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6. J Clin Immunol. 2022. PMID: 36198931
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. Among authors: seppanen mrj. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling.
Tuovinen EA, Pöysti S, Hamdan F, Le KM, Keskitalo S, Turunen T, Minier L, Mamia N, Heiskanen K, Varjosalo M, Cerullo V, Kere J, Seppänen MRJ, Hänninen A, Grönholm J. Tuovinen EA, et al. Among authors: seppanen mrj. J Clin Immunol. 2023 Feb;43(2):358-370. doi: 10.1007/s10875-022-01375-6. Epub 2022 Oct 19. J Clin Immunol. 2023. PMID: 36260239 Free PMC article.
81 results