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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.
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Kaustio M, Haapaniemi E, Göös H, Hautala T, Park G, Syrjänen J, Einarsdottir E, Sahu B, Kilpinen S, Rounioja S, Fogarty CL, Glumoff V, Kulmala P, Katayama S, Tamene F, Trotta L, Morgunova E, Krjutškov K, Nurmi K, Eklund K, Lagerstedt A, Helminen M, Martelius T, Mustjoki S, Taipale J, Saarela J, Kere J, Varjosalo M, Seppänen M. Kaustio M, et al. Among authors: martelius t. J Allergy Clin Immunol. 2017 Sep;140(3):782-796. doi: 10.1016/j.jaci.2016.10.054. Epub 2017 Jan 21. J Allergy Clin Immunol. 2017. PMID: 28115215
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.
Kostjukovits S, Klemetti P, Valta H, Martelius T, Notarangelo LD, Seppänen M, Taskinen M, Mäkitie O. Kostjukovits S, et al. Among authors: martelius t. J Allergy Clin Immunol. 2017 Aug;140(2):612-614.e5. doi: 10.1016/j.jaci.2017.02.016. Epub 2017 Mar 9. J Allergy Clin Immunol. 2017. PMID: 28284971 Free PMC article. No abstract available.
Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland.
Selenius JS, Martelius T, Pikkarainen S, Siitonen S, Mattila E, Pietikäinen R, Suomalainen P, Aalto AH, Saarela J, Einarsdottir E, Järvinen A, Färkkilä M, Kere J, Seppänen M. Selenius JS, et al. Among authors: martelius t. Front Immunol. 2017 Sep 28;8:1190. doi: 10.3389/fimmu.2017.01190. eCollection 2017. Front Immunol. 2017. PMID: 29033928 Free PMC article.
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
Trotta L, Martelius T, Siitonen T, Hautala T, Hämäläinen S, Juntti H, Taskinen M, Ilander M, Andersson EI, Zavialov A, Kaustio M, Keski-Filppula R, Hershfield M, Mustjoki S, Tapiainen T, Seppänen M, Saarela J. Trotta L, et al. Among authors: martelius t. J Allergy Clin Immunol. 2018 Apr;141(4):1534-1537.e8. doi: 10.1016/j.jaci.2018.01.012. Epub 2018 Jan 31. J Allergy Clin Immunol. 2018. PMID: 29391253 No abstract available.
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Trotta L, Norberg A, Taskinen M, Béziat V, Degerman S, Wartiovaara-Kautto U, Välimaa H, Jahnukainen K, Casanova JL, Seppänen M, Saarela J, Koskenvuo M, Martelius T. Trotta L, et al. Among authors: martelius t. Orphanet J Rare Dis. 2018 Aug 17;13(1):139. doi: 10.1186/s13023-018-0864-9. Orphanet J Rare Dis. 2018. PMID: 30115091 Free PMC article.
Chronic norovirus infection in primary immune deficiency disorders: an international case series.
Rolfes MC, Sriaroon P, Dávila Saldaña BJ, Dvorak CC, Chapdelaine H, Ferdman RM, Chen K, Jolles S, Patel NC, Kim YJ, Tarrant TK, Martelius T, Seppanen M, Joshi AY. Rolfes MC, et al. Among authors: martelius t. Diagn Microbiol Infect Dis. 2019 Jan;93(1):69-73. doi: 10.1016/j.diagmicrobio.2018.08.002. Epub 2018 Aug 12. Diagn Microbiol Infect Dis. 2019. PMID: 30174143
Somatic mutations and T-cell clonality in patients with immunodeficiency.
Savola P, Martelius T, Kankainen M, Huuhtanen J, Lundgren S, Koski Y, Eldfors S, Kelkka T, Keränen MAI, Ellonen P, Kovanen PE, Kytölä S, Saarela J, Lähdesmäki H, Seppänen MRJ, Mustjoki S. Savola P, et al. Among authors: martelius t. Haematologica. 2020 Dec 1;105(12):2757-2768. doi: 10.3324/haematol.2019.220889. Haematologica. 2020. PMID: 33256375 Free PMC article.
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: martelius 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.
41 results