RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis
Kalinichenko, Artem, Perinetti Casoni, Giovanna, Dupré, Loïc, Trotta, Luca, Huemer, Jakob, Galgano, Donatella, German, Yolla, Haladik, Ben, Pazmandi, Julia, Thian, Marini, Yüce Petronczki, Özlem, Chiang, Samuel C., Taskinen, Mervi, Hekkala, Anne, Kauppila, Saila, Lindgren, Outi, Tapiainen, Terhi, Kraakman, Michael J., Vettenranta, Kim, Lomakin, Alexis J., Saarela, Janna, Seppänen, Mikko R.J., Bryceson, Yenan T., Boztug, Kaan
Published in Blood (15.04.2021)
Published in Blood (15.04.2021)
Get full text
Journal Article
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency
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.
Published in Journal of clinical immunology (01.04.2020)
Published in Journal of clinical immunology (01.04.2020)
Get full text
Journal Article
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
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
Published in Frontiers in immunology (05.12.2019)
Published in Frontiers in immunology (05.12.2019)
Get full text
Journal Article
The evolution of cellular deficiency in GATA2 mutation
Dickinson, Rachel E., Milne, Paul, Jardine, Laura, Zandi, Sasan, Swierczek, Sabina I., McGovern, Naomi, Cookson, Sharon, Ferozepurwalla, Zaveyna, Langridge, Alexander, Pagan, Sarah, Gennery, Andrew, Heiskanen-Kosma, Tarja, Hämäläinen, Sari, Seppänen, Mikko, Helbert, Matthew, Tholouli, Eleni, Gambineri, Eleonora, Reykdal, Sigrún, Gottfreðsson, Magnús, Thaventhiran, James E., Morris, Emma, Hirschfield, Gideon, Richter, Alex G., Jolles, Stephen, Bacon, Chris M., Hambleton, Sophie, Haniffa, Muzlifah, Bryceson, Yenan, Allen, Carl, Prchal, Josef T., Dick, John E., Bigley, Venetia, Collin, Matthew
Published in Blood (06.02.2014)
Published in Blood (06.02.2014)
Get full text
Journal Article
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Flanagan, Sarah E, Haapaniemi, Emma, Russell, Mark A, Caswell, Richard, Allen, Hana Lango, De Franco, Elisa, McDonald, Timothy J, Rajala, Hanna, Ramelius, Anita, Barton, John, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Kajosaari, Merja, Murphy, Nuala P, Milenkovic, Tatjana, Seppänen, Mikko, Lernmark, Åke, Mustjoki, Satu, Otonkoski, Timo, Kere, Juha, Morgan, Noel G, Ellard, Sian, Hattersley, Andrew T
Published in Nature genetics (01.08.2014)
Published in Nature genetics (01.08.2014)
Get full text
Journal Article
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3
Haapaniemi, Emma M., Kaustio, Meri, Rajala, Hanna L.M., van Adrichem, Arjan J., Kainulainen, Leena, Glumoff, Virpi, Doffinger, Rainer, Kuusanmäki, Heikki, Heiskanen-Kosma, Tarja, Trotta, Luca, Chiang, Samuel, Kulmala, Petri, Eldfors, Samuli, Katainen, Riku, Siitonen, Sanna, Karjalainen-Lindsberg, Marja-Liisa, Kovanen, Panu E., Otonkoski, Timo, Porkka, Kimmo, Heiskanen, Kaarina, Hänninen, Arno, Bryceson, Yenan T., Uusitalo-Seppälä, Raija, Saarela, Janna, Seppänen, Mikko, Mustjoki, Satu, Kere, Juha
Published in Blood (22.01.2015)
Published in Blood (22.01.2015)
Get full text
Journal Article
Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa
Gonzalez Santiago, Tania M, Zavialov, Andrey, Saarela, Janna, Seppanen, Mikko, Reed, Ann M, Abraham, Roshini S, Gibson, Lawrence E
Published in JAMA dermatology (Chicago, Ill.) (01.11.2015)
Published in JAMA dermatology (Chicago, Ill.) (01.11.2015)
Get more information
Journal Article
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world
El-Sayed, Zeinab A, Abramova, Irina, Aldave, Juan Carlos, Al-Herz, Waleed, Bezrodnik, Liliana, Boukari, Rachida, Bousfiha, Ahmed Aziz, Cancrini, Caterina, Condino-Neto, Antonio, Dbaibo, Ghassan, Derfalvi, Beata, Dogu, Figen, Edgar, J David M, Eley, Brian, El-Owaidy, Rasha Hasan, Espinosa-Padilla, Sara Elva, Galal, Nermeen, Haerynck, Filomeen, Hanna-Wakim, Rima, Hossny, Elham, Ikinciogullari, Aydan, Kamal, Ebtihal, Kanegane, Hirokazu, Kechout, Nadia, Lau, Yu Lung, Morio, Tomohiro, Moschese, Viviana, Neves, Joao Farela, Ouederni, Monia, Paganelli, Roberto, Paris, Kenneth, Pignata, Claudio, Plebani, Alessandro, Qamar, Farah Naz, Qureshi, Sonia, Radhakrishnan, Nita, Rezaei, Nima, Rosario, Nelson, Routes, John, Sanchez, Berta, Sediva, Anna, Seppanen, Mikko Rj, Serrano, Edith Gonzalez, Shcherbina, Anna, Singh, Surjit, Siniah, Sangeetha, Spadaro, Guiseppe, Tang, Mimi, Vinet, Ana Maria, Volokha, Alla, Sullivan, Kathleen E
Published in The World Allergy Organization journal (01.01.2019)
Published in The World Allergy Organization journal (01.01.2019)
Get full text
Journal Article
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
Fischer, Marco, Olbrich, Peter, Hadjadj, Jérôme, Aumann, Volker, Bakhtiar, Shahrzad, Barlogis, Vincent, von Bismarck, Philipp, Bloomfield, Markéta, Booth, Claire, Buddingh, Emmeline P, Cagdas, Deniz, Castelle, Martin, Chan, Alice Y, Chandrakasan, Shanmuganathan, Chetty, Kritika, Cougoul, Pierre, Crickx, Etienne, Dara, Jasmeen, Deyà-Martínez, Angela, Farmand, Susan, Formankova, Renata, Gennery, Andrew R, Gonzalez-Granado, Luis Ignacio, Hagin, David, Hanitsch, Leif Gunnar, Hanzlikovà, Jana, Hauck, Fabian, Ivorra-Cortés, José, Kisand, Kai, Kiykim, Ayca, Körholz, Julia, Leahy, Timothy Ronan, van Montfrans, Joris, Nademi, Zohreh, Nelken, Brigitte, Parikh, Suhag, Plado, Silvi, Ramakers, Jan, Redlich, Antje, Rieux-Laucat, Frédéric, Rivière, Jacques G, Rodina, Yulia, Júnior, Pérsio Roxo, Salou, Sarah, Schuetz, Catharina, Shcherbina, Anna, Slatter, Mary A, Touzot, Fabien, Unal, Ekrem, Lankester, Arjan C, Burns, Siobhan, Seppänen, Mikko R J, Neth, Olaf, Albert, Michael H, Ehl, Stephan, Neven, Bénédicte, Speckmann, Carsten
Published in Journal of allergy and clinical immunology (01.01.2024)
Published in Journal of allergy and clinical immunology (01.01.2024)
Get full text
Journal Article
Global systematic review of primary immunodeficiency registries
Abolhassani, Hassan, Azizi, Gholamreza, Sharifi, Laleh, Yazdani, Reza, Mohsenzadegan, Monireh, Delavari, Samaneh, Sohani, Mahsa, Shirmast, Paniz, Chavoshzadeh, Zahra, Mahdaviani, Seyed Alireza, Kalantari, Arash, Tavakol, Marzieh, Jabbari-Azad, Farahzad, Ahanchian, Hamid, Momen, Tooba, Sherkat, Roya, Sadeghi-Shabestari, Mahnaz, Aleyasin, Soheila, Esmaeilzadeh, Hossein, Al-Herz, Waleed, Bousfiha, Ahmed Aziz, Condino-Neto, Antonio, Seppänen, Mikko, Sullivan, Kathleen E., Hammarström, Lennart, Modell, Vicki, Modell, Fred, Quinn, Jessica, Orange, Jordan S., Aghamohammadi, Asghar
Published in Expert review of clinical immunology (02.07.2020)
Published in Expert review of clinical immunology (02.07.2020)
Get full text
Journal Article
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
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
Published in Journal of clinical immunology (01.10.2022)
Published in Journal of clinical immunology (01.10.2022)
Get full text
Journal Article
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
Bousfiha, Aziz, Moundir, Abderrahmane, Tangye, Stuart G., Picard, Capucine, Jeddane, Leïla, Al-Herz, Waleed, Rundles, Charlotte C., Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Morio, Tomohiro, Oksenhendler, Eric, Puel, Anne, Puck, Jennifer, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C., Sullivan, Kathleen E., Torgerson, Troy R., Meyts, Isabelle
Published in Journal of clinical immunology (01.10.2022)
Published in Journal of clinical immunology (01.10.2022)
Get full text
Journal Article
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
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
Published in Journal of clinical immunology (01.04.2021)
Published in Journal of clinical immunology (01.04.2021)
Get full text
Journal Article
European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management
Brodszki, Nicholas, Frazer-Abel, Ashley, Grumach, Anete S., Kirschfink, Michael, Litzman, Jiri, Perez, Elena, Seppänen, Mikko R. J., Sullivan, Kathleen E., Jolles, Stephen
Published in Journal of clinical immunology (01.05.2020)
Published in Journal of clinical immunology (01.05.2020)
Get full text
Journal Article
Glimpses into treating GLILD
Martelius, Timi, Seppänen, Mikko R.J.
Published in Journal of allergy and clinical immunology (01.08.2023)
Published in Journal of allergy and clinical immunology (01.08.2023)
Get full text
Journal Article
Primary Immunodeficiency, a Possible Cause of Neutrophilic Necrotizing Dermatosis
Kaustio, Meri, Hautala, Timo, Seppänen, Mikko R J
Published in JAMA dermatology (Chicago, Ill.) (01.07.2019)
Published in JAMA dermatology (Chicago, Ill.) (01.07.2019)
Get more information
Journal Article
Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID)
Martelius, Timi, Seppänen, Mikko R J, Warnatz, Klaus
Published in Frontiers in immunology (10.01.2023)
Published in Frontiers in immunology (10.01.2023)
Get full text
Journal Article