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Publications 2001 2019

2019

A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency

Pikkarainen, S., Martelius, T., Ristimäki, A., Siitonen, S., Seppanen, M. R. J. & Färkkilä, M., Apr 2019, In : American Journal of Gastroenterology. 114, 4, p. 648-655 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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Chronic norovirus infection in primary immune deficiency disorders: an international case series

Rolfes, M. C., Sriaroon, P., Saldana, B. J. D., Dvorak, C. C., Chapdelaine, H., Ferdman, R. M., Chen, K., Jolles, S., Patel, N. C., Kim, Y. J., Tarrant, T. K., Martelius, T., Seppanen, M. & Joshi, A. Y., Jan 2019, In : Diagnostic Microbiology and Infectious Disease. 93, 1, p. 69-73 5 p.

Research output: Contribution to journalArticleScientificpeer-review

General considerations

Seppänen, M. & Rezaei, N., 2019, Pulmonary Manifestations of Primary Immunodeficiency Diseases . Mahdaviani, S. A. & Rezaei, N. (eds.). Springer, Cham, p. 1-36 36 p.

Research output: Chapter in Book/Report/Conference proceedingChapterScientificpeer-review

Haittaako tietosuojalainsäädäntö tutkimusta?

Seppänen, M., Kahri, P., Kere, J., Raivio, T. & Pitkäranta, A., 2019, In : Suomen lääkärilehti. 74, 12, p. 719-719a 2 p.

Research output: Contribution to journalEditorialProfessional

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Kaasinen, E., Kuismin, O., Rajamäki, K., Ristolainen, H., Aavikko, M., Kondelin, J., Saarinen, S., Berta, D. G., Katainen, R., Hirvonen, E. A. M., Karhu, A., Taira, A., Tanskanen, T., Alkodsi, A., Taipale, M., Morgunova, E., Franssila, K., Lehtonen, R., Mäkinen, M., Aittomäki, K. & 15 othersPalotie, A., Kurki, M., Pietiläinen, O., Hilpert, M., Saarentaus, E., Niinimäki, J., Junttila, J., Kaikkonen, K., Vahteristo, P., Skoda, R. C., Seppänen, M. R. J., Eklund, K. K., Taipale, J., Kilpivaara, O. & Aaltonen, L. A., 19 Mar 2019, In : Nature Communications. 10, 17 p., 1252.

Research output: Contribution to journalArticleScientificpeer-review

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Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

Buchbinder, D., Hauck, F., Albert, M. H., Rack, A., Bakhtiar, S., Shcherbina, A., Deripapa, E., Sullivan, K. E., Perelygina, L., Eloit, M., Neven, B., Perot, P., Moshous, D., Suarez, F., Bodemer, C., Bonilla, F. A., Vaz, L. E., Krol, A. L., Klein, C., Seppänen, M. & 3 othersNugent, D. J., Singh, J. & Ochs, H. D., Jan 2019, In : Journal of Clinical Immunology. 39, 1, p. 81-89 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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2018

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, E. I., Zavialov, A., Kaustio, M., Keski-Filppula, R., Hershfield, M., Mustjoki, S., Tapiainen, T., Seppänen, M. & Saarela, J., Apr 2018, In : Journal of Allergy and Clinical Immunology. 141, 4, p. 1534-+ 12 p.

Research output: Contribution to journalLetterScientificpeer-review

Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes

Buchbinder, D., Seppanen, M., Rao, V. K., Uzel, G. & Nugent, D., Jul 2018, In : Journal of pediatric hematology/oncology. 40, 5, p. E319-E322 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Trotta, L., Norberg, A., Taskinen, M., Beziat, V., Degerman, S., Wartiovaara-Kautto, U., Välimaa, H., Jahnukainen, K., Casanova, J-L., Seppänen, M., Saarela, J., Koskenvuo, M. & Martelius, T., 17 Aug 2018, In : Orphanet journal of rare diseases. 13, 9 p., 139.

Research output: Contribution to journalArticleScientificpeer-review

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Haploinsufficiency of A20 impairs protein–protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

Rajamäki, K., Keskitalo, S., Seppänen, M., Kuismin, O., Vähäsalo, P., Trotta, L., Väänänen, A., Glumoff, V., Keskitalo, P., Kaarteenaho, R., Jartti, A., Hautala, N., Jackson, P., Nordström, D. C., Saarela, J., Hautala, T., Eklund, K. K. & Varjosalo, M., 1 Oct 2018, In : RMD open. 4, 2, e000740.

Research output: Contribution to journalArticleScientificpeer-review

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Immunoglobulin E-an Innocent Bystander in Host Defense?

Zhang, Q. & Seppanen, M. R. J., Apr 2018, In : Journal of Clinical Immunology. 38, 3, p. 223-224 2 p.

Research output: Contribution to journalEditorialScientificpeer-review

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Immuunivajavuudet maksa- ja suolistosairauksissa

Pikkarainen, S. & Seppänen, M., 2018, Gastroenterologia ja hepatologia. Färkkilä, M., Heikkinen, M., Isoniemi, H. & Puolakkainen, P. (eds.). 3. uud. p. ed. Helsinki: Duodecim, p. 384-389 6 p.

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional

Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy

Hautala, T. J., Perelygina, L., Vuorinen, T., Hautala, N. M., Hägg, P. M., Bode, M. K., Rusanen, H. T., Renko, M. H., Glumoff, V., Schwab, N., Schneider-Hohendorf, T., Murk, J-L., Sullivan, K. E. & Seppanen, M. R. J., Jan 2018, In : Journal of Clinical Immunology. 38, 1, p. 4-6 3 p.

Research output: Contribution to journalLetterScientificpeer-review

Novel cytoskeletal mutations with immunodeficiency: Why is the raven like a writing desk?

Seppänen, M. R. J., Nov 2018, In : Journal of Allergy and Clinical Immunology. 142, 5, p. 1444-1446 3 p.

Research output: Contribution to journalEditorialScientific

Suomi on synnynnäisten immuunivajeiden maa

Taskinen, M., Heiskanen, K., Kainulainen, L., Renko, M., Heiskanen-Kosma, T., Tapiainen, T., Vettenranta, K., Lukkarinen, H., Heikinheimo, M. & Seppänen, M., 2018, In : Duodecim. 134, 10, p. 989-992 4 p.

Research output: Contribution to journalEditorialProfessional

2017

Aikuisen infektioalttius

Hautala, T. & Seppänen, M., 2017, Lääkärin käsikirja. Jousimaa, J., Alenius, H., Atula, S., Berghem, N., Kattainen, A., Kunnamo, I., Pelttari, H. & Teikari, M. (eds.). 12. uud. p. ed. Helsinki: Duodecim, p. 10-16 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapterProfessional

Open Access
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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, C. L., Glumoff, V., Kulmala, P., Katayama, S., Tamene, F., Trotta, L., Morgunova, E., Krjutskov, K., Nurmi, K., Eklund, K. & 9 othersLagerstedt, A., Helminen, M., Martelius, T., Mustjoki, S., Taipale, J., Saarela, J., Kere, J., Varjosalo, M. & Seppanen, M., Sep 2017, In : Journal of Allergy and Clinical Immunology. 140, 3, p. 782-796 15 p.

Research output: Contribution to journalArticleScientificpeer-review

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Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies

Sullivan, K. E., Bassiri, H., Bousfiha, A. A., Costa-Carvalho, B. T., Freeman, A. F., Hagin, D., Lau, Y. L., Lionakis, M. S., Moreira, I., Pinto, J. A., de Moraes-Pinto, M. I., Rawat, A., Reda, S. M., Lugo Reyes, S. O., Seppanen, M. & Tang, M. L. K., Oct 2017, In : Journal of Clinical Immunology. 37, 7, p. 650-692 43 p.

Research output: Contribution to journalArticleScientificpeer-review

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Inhibition of rubella virus replication by the broad-spectrum drug nitazoxanide in cell culture and in a patient with a primary immune deficiency

Perelygina, L., Hautala, T., Seppänen, M., Adebayo, A., Sullivan, K. E. & Icenogle, J., Nov 2017, In : Antiviral Research. 147, p. 58-66 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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Introduction on Primary Immunodeficiency Diseases

Rezaei, N., Bonilla, F. A., Seppänen, M., De Vries, E., Bousfiha, A. A., Puck, J. & Orange, J., 2017, Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management. Rezaei, N., Aghamohammadi, A. & Notarangelo, L. D. (eds.). 2nd ed. ed. Springer-Verlag, p. 1-81 81 p.

Research output: Chapter in Book/Report/Conference proceedingChapterScientificpeer-review

Lasten vaikean synnynnäisen immuunivajeen hoito kantasolusiirron avulla

Ryhänen, S., Huttunen, P., Heiskanen, K., Seppänen, M., Kainulainen, L., Tapiainen, T., Heiskanen-Kosma, T., Helminen, M., Vettenranta, K. & Taskinen, M., 2017, In : Suomen lääkärilehti. 72, 34, p. 1776-1781 6 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

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Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations

Tangye, S. G., Forbes, L. R., Leiding, J., Preece, K., Kumar, A. R., Gambineri, E., Milner, J. D., Cooper, M. A. & Seppanen, M., Sep 2017, In : Clinical Chemistry (Washington, DC). 63, 9, p. 1539-1540 2 p.

Research output: Contribution to journalArticleScientific

SNP Variants in Major Histocompatibility Complex Are Associate with Sarcoidosis Susceptibility - A Joint Analysis in Four European Populations

Wolin, A., Lahtela, L. E., Anttila, V., Petrek, M., Grunewald, J., van Moorsel, C. H. M., Eklund, A., Grutters, J. C., Kolek, V., Mrazek, F., Kishore, A., Padyukov, L., Pietinalho, A., Ronninger, M., Seppanen, M., Selroos, O. & Lokki, M-L., 19 Apr 2017, In : Frontiers in Immunology. 8, 11 p., 422.

Research output: Contribution to journalArticleScientificpeer-review

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Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

Selenius, J. S., Martelius, T., Pikkarainen, S., Siitonen, S., Mattila, E., Pietikainen, R., Suomalainen, P., Aalto, A. H., Saarela, J., Einarsdottir, E., Jarvinen, A., Farkkila, M., Kere, J. & Seppanen, M., 28 Sep 2017, In : Frontiers in Immunology. 8, 10 p., 1190.

Research output: Contribution to journalArticleScientificpeer-review

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2016

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

Trotta, L., Hautala, T., Hamalainen, S., Syrjanen, J., Viskari, H., Almusa, H., Lepisto, M., Kaustio, M., Porkka, K., Palotie, A., Seppanen, M. & Saarela, J., Oct 2016, In : European Journal of Human Genetics. 24, 10, p. 1473-1478 6 p.

Research output: Contribution to journalArticleScientificpeer-review

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Harvinaissairauksien yksiköt ja niiden verkostoituminen Suomessa

Seppänen, M. & Lukkarinen, H., 2016, In : Sic! Lääketietoa Fimeasta. 6, 4, p. 32-36 5 p.

Research output: Contribution to journalArticleProfessional

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Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Schatorje, E., van der Flier, M., Seppanen, M., Browning, M., Morsheimer, M., Henriet, S., Neves, J. F., Vinh, D. C., Alsina, L., Grumach, A., Soler-Palacin, P., Boyce, T., Celmeli, F., Goudouris, E., Hayman, G., Herriot, R., Forster-Waldl, E., Seidel, M., Simons, A. & de Vries, E., 2 Aug 2016, In : Orphanet journal of rare diseases. 11, 14 p., 110.

Research output: Contribution to journalArticleScientificpeer-review

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2015

Återkommande allvarliga luftvägsinfektioner : när ska jag misstänka immunbrist hos vuxna?

Martelius, T. & Seppänen, M., 2015, In : Finska Läkaresällskapets Handlingar. 175, 2, p. 65-71 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

Haapaniemi, E. M., Kaustio, M., Rajala, H. L. M., van Adrichem, A. J., Kainulainen, L., Glumoff, V., Doffinger, R., Kuusanmaki, H., Heiskanen-Kosma, T., Trotta, L., Chiang, S., Kulmala, P., Eldfors, S., Katainen, R., Siitonen, S., Karjalainen-Lindsberg, M-L., Kovanen, P. E., Otonkoski, T., Porkka, K., Heiskanen, K. & 7 othersHanninen, A., Bryceson, Y. T., Uusitalo-Seppala, R., Saarela, J., Seppanen, M., Mustjoki, S. & Kere, J., 22 Jan 2015, In : Blood. 125, 4, p. 639-648 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

Gonzalez Santiago, T. M., Zavialov, A., Saarela, J., Seppänen, R. M. J., Reed, A. M., Abraham, R. S. & Gibson, L. E., 1 Nov 2015, In : Jama dermatology. 151, 11, p. 1230-1234 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Large Granular Lymphocyte Infiltration in the Bone Marrow in Children and Young Adults May Suggest Primary Immune Deficiency

Taskinen, M. H., Mustjoki, S., Jahnukainen, K., Trotta, L., Siitonen, T., Hautala, T., Zavialov, A., Heiskanen, K., Haapaniemi, E. M., Saarela, J. & Seppanen, M., 3 Dec 2015, In : Blood. 126, 23, 3 p., 1024.

Research output: Contribution to journalMeeting AbstractResearchpeer-review

Yliopistosairaaloihin harvinaisten tautien yksiköt

Seppänen, M., Lukkarinen, H. & Kääriäinen, H., 2015, In : Suomen lääkärilehti. 70, 38, p. 2381 1 p.

Research output: Contribution to journalEditorialScientific

2014

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Flanagan, S. E., Haapaniemi, E., Russell, M. A., Caswell, R., Allen, H. L., De Francol, E., McDonald, T. J., Rajala, H., Ramelius, A., Barton, J., Heiskanen, K., Heiskanen-Kosmal, T., Kajosaari, M., Murphyli, N. P., Milenkovic, T., Seppanen, M., Lemmark, A., Mustjoki, S., Otonkoski, T., Kere, J. & 3 othersMorgan, N. G., Ellard, S. & Hattersley, A. T., 1 Aug 2014, In : Nature Genetics. 46, 8, p. 812-814 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Complement C4 Deficiency - A Plausible Risk Factor for Non-Tuberculous Mycobacteria (NTM) Infection in Apparently Immunocompetent Patients

Kotilainen, H., Lokki, M-L., Paakkanen, R., Seppanen, M., Tukiainen, P., Meri, S., Poussa, T., Eskola, J., Valtonen, V. & Jarvinen, A., 17 Mar 2014, In : PLoS One. 9, 3, 6 p., 91450.

Research output: Contribution to journalArticleScientificpeer-review

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Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

Recher, M., Karjalainen-Lindsberg, M-L., Lindlof, M., Söderlund-Venermo, M., Lanzi, G., Vaisanen, E., Kumar, A., Sadeghi, M., Berger, C. T., Alitalo, T., Anttila, P., Kolehmainen, M., Franssila, R., Chen, T., Siitonen, S., Delmonte, O. M., Walter, J. E., Pessach, I., Hess, C., Simpson, M. A. & 5 othersNavarini, A. A., Giliani, S., Hedman, K., Seppanen, M. & Notarangelo, L. D., May 2014, In : Journal of Allergy and Clinical Immunology. 133, 5, p. 1462-U382 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Immunoglobulin G treatment of secondary immunodeficiencies in the era of novel therapies

Seppänen, M., Dec 2014, In : Clinical and Experimental Immunology. 178, Suppl. 1, p. 10-13 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Is there a need to redefine the diagnostic criteria for common variable immunodeficiency?

Seppanen, M., Aghamohammadi, A. & Rezaei, N., Jan 2014, In : Expert Review of Clinical Immunology. 10, 1, p. 1-5 5 p.

Research output: Contribution to journalArticleScientific

Peripheral hypertrophic subepithelial corneal degeneration: characterization, treatment and association with human leucocyte antigen genes

Jarventausta, P. J., Holopainen, J. M., Zalentein, W. N., Paakkanen, R., Wennerstrom, A., Seppanen, M., Lokki, M-L. & Tervo, T. M. T., Feb 2014, In : Acta Ophthalmologica. 92, 1, p. 71-76 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency

Seppanen, M., Koillinen, H., Mustjoki, S., Tomi, M. & Sullivan, K. E., Jan 2014, In : Journal of Clinical Immunology. 34, 1, p. 114-118 5 p.

Research output: Contribution to journalArticleScientificpeer-review

The evolution of cellular deficiency in GATA2 mutation

Dickinson, R. E., Milne, P., Jardine, L., Zandi, S., Swierczek, S. I., McGovern, N., Cookson, S., Ferozepurwalla, Z., Langridge, A., Pagan, S., Gennery, A., Heiskanen-Kosma, T., Hamalainen, S., Seppanen, M., Helbert, M., Tholouli, E., Gambineri, E., Reykdal, S., Gottfredsson, M., Thaventhiran, J. E. & 13 othersMorris, E., Hirschfield, G., Richter, A. G., Jolles, S., Bacon, C. M., Hambleton, S., Haniffa, M., Bryceson, Y., Allen, C., Prchal, J. T., Dick, J. E., Bigley, V. & Collin, M., 6 Feb 2014, In : Blood. 123, 6, p. 863-874 12 p.

Research output: Contribution to journalArticleScientificpeer-review

TLR3 deficiency in herpes simplex encephalitis High allelic heterogeneity and recurrence risk

Lim, H. K., Seppanen, M., Hautala, T., Ciancanelli, M. J., Itan, Y., Lafaille, F. G., Dell, W., Lorenzo, L., Byun, M., Pauwels, E., Ronnelid, Y., Cai, X., Boucherit, S., Jouanguy, E., Paetau, A., Lebon, P., Rozenberg, F., Tardieu, M., Abel, L., Yildiran, A. & 6 othersVergison, A., Roivainen, R., Etzioni, A., Tienari, P. J., Casanova, J-L. & Zhang, S-Y., 18 Nov 2014, In : Neurology. 83, 21, p. 1888-1897 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2013

Diversity of Extended HLA-DRB1 Haplotypes in the Finnish Population

Wennerström, A., Vlachopoulou, E., Lahtela, L. E., Paakkanen, R., Eronen, K. T., Seppänen, M. & Lokki, M-L., 21 Nov 2013, In : PLoS One. 8, 11, 13 p., 79690.

Research output: Contribution to journalArticleScientificpeer-review

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Herpes simplex -virusinfektioiden nykykuva ja hoito

Välimaa, H., Seppänen, M. & Hukkanen, V., 2013, In : Duodecim. 129, 1, p. 31-40 10 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Major histocompatibility complex class II and BTNL2 associations in sarcoidosis

Wennerström, A., Pietinalho, A., Lasota, J., Salli, K., Surakka, I., Seppänen, M., Selroos, O. & Lokki, M-L., Aug 2013, In : European Respiratory Journal. 42, 2, p. 550-553 4 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

C4A deficiency in children and adolescents with recurrent respiratory infections

Kainulainen, L., Peltola, V., Seppänen, M., Viander, M., He, Q., Lokki, M-L. & Ruuskanen, O., 2012, In : Human Immunology. 73, 5, p. 498-501 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Copy Number Analysis of Complement C4A, C4B and C4A Silencing Mutation by Real-Time Quantitative Polymerase Chain Reaction

Paakkanen, R., Vauhkonen, H., Eronen, K. T., Järvinen, A., Seppanen, M. & Lokki, M-L., 2012, In : PLoS One. 7, 6, p. Article Number: e38813 7 p.

Research output: Contribution to journalArticleScientificpeer-review

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HLA-DRB1 allele frequencies and C4 copy number variation in Finnish sarcoidosis patients and associations with disease prognosis.

Wennerström, A., Pietinalho, A., Vauhkonen, H. K., Lahtela, L. E., Palikhe, A., Hedman, J., Varkki, E., Seppänen, M., Lokki, M-L. & Selroos, O., 23 Oct 2012, In : Human Immunology. 73, 1, p. 93-100

Research output: Contribution to journalArticleScientificpeer-review