Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID)

por Martelius, Timi, Seppänen, Mikko R. J., Warnatz, Klaus
Publicado 2023

A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency

por Pikkarainen, Sampsa, Martelius, Timi, Ristimäki, Ari, Siitonen, Sanna, Seppänen, Mikko R.J., Färkkilä, Martti
Publicado 2019

IRF2BP2 Mutation Is Associated with Increased STAT1 and STAT5 Activation in Two Family Members with Inflammatory Conditions and Lymphopenia

por Palmroth, Maaria, Viskari, Hanna, Seppänen, Mikko R. J., Keskitalo, Salla, Virtanen, Anniina, Varjosalo, Markku, Silvennoinen, Olli, Isomäki, Pia
Publicado 2021

European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guide...

por Brodszki, Nicholas, Frazer-Abel, Ashley, Grumach, Anete S., Kirschfink, Michael, Litzman, Jiri, Perez, Elena, Seppänen, Mikko R. J., Sullivan, Kathleen E., Jolles, Stephen
Publicado 2020

Tonsillar granuloma associated with hypogammaglobulinemia

por Laajala, Aleksi, Kuismin, Outi, Tastula, Mikko, Tiitto, Leena, Kauppila, Saila, Salo, Anna, Åström, Pirjo, Nissinen, Antti, Glumoff, Virpi, Seppänen, Mikko R. J., Hautala, Timo
Publicado 2020

Low and high serum IgG associates with respiratory infections in a young and working age population

por Holma, Pia, Pesonen, Paula, Karjalainen, Minna K., Järvelin, Marjo-Riitta, Väyrynen, Sara, Sliz, Eeva, Heikkilä, Anni, Seppänen, Mikko R.J., Kettunen, Johannes, Auvinen, Juha, Hautala, Timo
Publicado 2023

Inborn Errors of Immunity on the Island of Ireland — a Cross-Jurisdictional UKPID/ESID Registry Report

por Ryan, Paul, Redenbaugh, Vyanka, McGucken, Jayne, Kindle, Gerhard, Devlin, Lisa A., Coulter, Tanya, Buckland, Matthew S., Seppänen, Mikko R. J., Conlon, Niall P., Feighery, Conleth, Edgar, J. David M.
Publicado 2022

Correction to: Inborn Errors of Immunity on the Island of Ireland — a Cross‑Jurisdictional UKPID/ESID Registry Report

por Ryan, Paul, Redenbaugh, Vyanka, McGucken, Jayne, Kindle, Gerhard, Devlin, Lisa A., Coulter, Tanya, Buckland, Matthew S., Seppänen, Mikko R. J., Conlon, Niall P., Feighery, Conleth, Edgar, J. David M.
Publicado 2022

Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis

por Santaniemi, Wenny, Åström, Pirjo, Glumoff, Virpi, Pernaa, Nora, Tallgren, Ella-Noora, Palosaari, Sanna, Nissinen, Antti, Kaustio, Meri, Kuismin, Outi, Saarela, Janna, Nurmi, Katariina, Eklund, Kari K., Seppänen, Mikko R. J., Hautala, Timo
Publicado 2023

Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling

por Tuovinen, Elina A., Pöysti, Sakari, Hamdan, Firas, Le, Kim My, Keskitalo, Salla, Turunen, Tanja, Minier, Léa, Mamia, Nanni, Heiskanen, Kaarina, Varjosalo, Markku, Cerullo, Vincenzo, Kere, Juha, Seppänen, Mikko R. J., Hänninen, Arno, Grönholm, Juha
Publicado 2022

Somatic mutations and T-cell clonality in patients with immunodeficiency

por Savola, Paula, Martelius, Timi, Kankainen, Matti, Huuhtanen, Jani, Lundgren, Sofie, Koski, Yrjö, Eldfors, Samuli, Kelkka, Tiina, Keränen, Mikko A.I., Ellonen, Pekka, Kovanen, Panu E., Kytölä, Soili, Saarela, Janna, Lähdesmäki, Harri, Seppänen, Mikko R.J., Mustjoki, Satu
Publicado 2019

Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy

por Hautala, Timo J., Perelygina, Ludmila, Vuorinen, Tytti, Hautala, Nina M., Hägg, Päivi M., Bode, Michaela K., Rusanen, Harri T., Renko, Marjo H., Glumoff, Virpi, Schwab, Nicholas, Schneider-Hohendorf, Tilman, Murk, Jean-Luc, Sullivan, Kathleen E., Seppänen, Mikko R. J.
Publicado 2017

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

por Hautala, Timo, Chen, Jie, Tervonen, Laura, Partanen, Terhi, Winqvist, Satu, Lehtonen, Johanna, Saarela, Janna, Kraatari, Minna, Kuismin, Outi, Vuorinen, Tytti, Glumoff, Virpi, Åström, Pirjo, Huuskonen, Usko, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko R.J.
Publicado 2020

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

por Tuovinen, Elina A., Grönholm, Juha, Öhman, Tiina, Pöysti, Sakari, Toivonen, Raine, Kreutzman, Anna, Heiskanen, Kaarina, Trotta, Luca, Toiviainen-Salo, Sanna, Routes, John M., Verbsky, James, Mustjoki, Satu, Saarela, Janna, Kere, Juha, Varjosalo, Markku, Hänninen, Arno, Seppänen, Mikko R. J.
Publicado 2020

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

por Keskitalo, Salla, Haapaniemi, Emma, Einarsdottir, Elisabet, Rajamäki, Kristiina, Heikkilä, Hannele, Ilander, Mette, Pöyhönen, Minna, Morgunova, Ekaterina, Hokynar, Kati, Lagström, Sonja, Kivirikko, Sirpa, Mustjoki, Satu, Eklund, Kari, Saarela, Janna, Kere, Juha, Seppänen, Mikko R. J., Ranki, Annamari, Hannula-Jouppi, Katariina, Varjosalo, Markku
Publicado 2019

Immune response to a conserved enteroviral epitope of the major capsid VP1 protein is associated with lower risk of cardiovascular disease

por Pupina, Nadežda, Avarlaid, Annela, Sadam, Helle, Pihlak, Arno, Jaago, Mariliis, Tuvikene, Jürgen, Rähni, Annika, Planken, Anu, Planken, Margus, Kalso, Eija, Tienari, Pentti J., Nieminen, Janne K., Seppänen, Mikko R.J., Vaheri, Antti, Lindholm, Dan, Sinisalo, Juha, Pussinen, Pirkko, Timmusk, Tõnis, Palm, Kaia
Publicado 2022

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

por Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puel, Anne, Puck, Jennifer, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C, Sullivan, Kathleen E., Torgerson, Troy R., Meyts, Isabelle
Publicado 2021

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

por Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puel, Anne, Puck, Jennifer, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C., Sullivan, Kathleen E., Torgerson, Troy R., Meyts, Isabelle
Publicado 2022

The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation

por Staus, Paulina, Rusch, Stephan, El-Helou, Sabine, Müller, Gabriele, Krausz, Máté, Geisen, Ulf, Caballero-Oteyza, Andrés, Krüger, Renate, Bakhtiar, Shahrzad, Lee-Kirsch, Min Ae, Fasshauer, Maria, Baumann, Ulrich, Hoyer, Bimba Franziska, Farela Neves, João, Borte, Michael, Carrabba, Maria, Hauck, Fabian, Ehl, Stephan, Bader, Peter, von Bernuth, Horst, Atschekzei, Faranaz, Seppänen, Mikko R. J., Warnatz, Klaus, Nieters, Alexandra, Kindle, Gerhard, Grimbacher, Bodo
Publicado 2023

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

por Kaasinen, Eevi, Kuismin, Outi, Rajamäki, Kristiina, Ristolainen, Heikki, Aavikko, Mervi, Kondelin, Johanna, Saarinen, Silva, Berta, Davide G., Katainen, Riku, Hirvonen, Elina A. M., Karhu, Auli, Taira, Aurora, Tanskanen, Tomas, Alkodsi, Amjad, Taipale, Minna, Morgunova, Ekaterina, Franssila, Kaarle, Lehtonen, Rainer, Mäkinen, Markus, Aittomäki, Kristiina, Palotie, Aarno, Kurki, Mitja I., Pietiläinen, Olli, Hilpert, Morgane, Saarentaus, Elmo, Niinimäki, Jaakko, Junttila, Juhani, Kaikkonen, Kari, Vahteristo, Pia, Skoda, Radek C., Seppänen, Mikko R. J., Eklund, Kari K., Taipale, Jussi, Kilpivaara, Outi, Aaltonen, Lauri A.
Publicado 2019