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1995 1
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2009 2
2010 3
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46 results

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Page 1
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… See abstract for full author list ➔ Leiding JW, et al. Among authors: martelius t. 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.
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group; Mace E, Milner JD, Ombrello MJ. Baysac K, et al. J Allergy Clin Immunol. 2024 Jan;153(1):230-242. doi: 10.1016/j.jaci.2023.08.036. Epub 2023 Sep 26. J Allergy Clin Immunol. 2024. PMID: 37769878 Free PMC article.
Glimpses into treating GLILD.
Martelius T, Seppänen MRJ. Martelius T, et al. J Allergy Clin Immunol. 2023 Aug;152(2):365-367. doi: 10.1016/j.jaci.2023.06.010. Epub 2023 Jun 21. J Allergy Clin Immunol. 2023. PMID: 37352977 No abstract available.
Precision T cell correction platform for inborn errors of immunity.
Mamia K, Kolbeinsdottir S, Labun K, Li Z, Komisarczuk A, Keskitalo S, Reint G, Loe Haugen F, Olaug Lindestad B, Skundberg Jensen S, Gjerdingen TJ, Tuhkala A, Wieczorek Ervik C, Kopcil P, Fatkhutdinov N, Bronken Martinsen KH, Erichsen HC, Szymanska M, Tölö E, Glumoff V, Saarela J, Melbye Michelsen T, Schalin-Jäntti C, Olweus J, Leinonen E, Varjosalo M, Valen E, Hautala T, Enge M, Martelius T, Dahal-Koirala S, Haapaniemi E. Mamia K, et al. Among authors: martelius t. Mol Ther. 2025 Aug 12:S1525-0016(25)00648-3. doi: 10.1016/j.ymthe.2025.08.018. Online ahead of print. Mol Ther. 2025. PMID: 40808259 Free article.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Seppänen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP. Donkó Á, et al. Among authors: martelius t. Blood. 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. Blood. 2024. PMID: 38194689 Free PMC article.
Heterozygous loss of MAP4K1 causes immune dysregulation by amplifying T-cell responses.
Kaustio M, Szymanska M, Li W, Braathen R, Campbell TM, Haugen FL, Dahal-Koirala S, Silventoinen K, Nurmi K, Dinius M, Nowlan K, Hetemäki I, Chen P, Mamia K, Seppänen MRJ, Grönholm J, Kekäläinen E, Haapaniemi EM, Aalto K, Martelius T, Bryceson Y, Eklund KK, Saarela J. Kaustio M, et al. Among authors: martelius t. J Allergy Clin Immunol. 2025 Jul 25:S0091-6749(25)00799-7. doi: 10.1016/j.jaci.2025.07.010. Online ahead of print. J Allergy Clin Immunol. 2025. PMID: 40716650 Free article.
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
Knox AVC, Cominsky LY, Sun D, Cruz Cabrera E, Nolan BE, Ofray E, Benetti E, Visconti C, Barzaghi F, Rosenzweig SD, Lawrence MG, Sullivan KE, Yoon S, Rachimi S, Padem N, Conboy E, Stojanovic M, Petrovic G, Pasic S, Church J, Ferdman RM, Candotti F, Arlabosse T, Theodoropoulou K, Dutmer CM, Maródi L, Szücs G, Broides A, Nahum A, Levy J, Kettunen K, Daddali R, Seppänen M, Vänttinen M, Martelius T, Grönholm J, Peri M, Azzari C, Ricci S, Ojaimi S, Edwards ESJ, van Zelm MC, Sun J, Abolhassani H, Pan-Hammarström Q, Hakonarson H, Mayr D, Boztug K, Boisson B, Casanova JL, Le Coz C, Poon GMK, Romberg N. Knox AVC, et al. Among authors: martelius t. Blood. 2025 May 29;145(22):2549-2560. doi: 10.1182/blood.2024026683. Blood. 2025. PMID: 39854693
Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia.
Daddali R, Kettunen K, Turunen T, Knox AVC, Laine P, Chowdhury I, Vänttinen M, Mamia N, Stiegler AL, Boggon TJ, Kere J, Romberg N, Seppänen MRJ, Varjosalo M, Martelius T, Grönholm J. Daddali R, et al. Among authors: martelius t. Clin Immunol. 2025 Aug;277:110503. doi: 10.1016/j.clim.2025.110503. Epub 2025 Apr 26. Clin Immunol. 2025. PMID: 40294836 Free 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: martelius 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.
46 results