Works by Seppänen, Mikko

Results: 46

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

Published in:

2018

By:

Trotta, Luca;
Norberg, Anna;
Taskinen, Mervi;
Béziat, Vivien;
Degerman, Sofie;
Wartiovaara-Kautto, Ulla;
Välimaa, Hannamari;
Jahnukainen, Kirsi;
Casanova, Jean-Laurent;
Seppänen, Mikko;
Saarela, Janna;
Koskenvuo, Minna;
Martelius, Timi;
Béziat, Vivien;
Välimaa, Hannamari;
Seppänen, Mikko

Publication type:

journal article

Primary immunodeficiency associated with chromosomal aberration - an ESID survey.

Published in:

2016

By:

Schatorjé, Ellen;
van der Flier, Michiel;
Seppänen, Mikko;
Browning, Michael;
Morsheimer, Megan;
Henriet, Stefanie;
Neves, João Farela;
Vinh, Donald Cuong;
Alsina, Laia;
Grumach, Anete;
Soler-Palacin, Pere;
Boyce, Thomas;
Celmeli, Fatih;
Goudouris, Ekaterini;
Hayman, Grant;
Herriot, Richard;
Förster-Waldl, Elisabeth;
Seidel, Markus;
Simons, Annet;
de Vries, Esther

Publication type:

journal article

Occurrence of human bocaviruses and parvovirus 4 in solid tissues.

Published in:

Journal of Medical Virology, 2012, v. 84, n. 8, p. 1267, doi. 10.1002/jmv.23335

By:

Norja, Päivi;
Hedman, Lea;
Kantola, Kalle;
Kemppainen, Kaisa;
Suvilehto, Jari;
Pitkäranta, Anne;
Aaltonen, Leena-Maija;
Seppänen, Mikko;
Hedman, Klaus;
Söderlund-Venermo, Maria

Publication type:

Article

Real-time PCR for detection and quantitation of hepatitis B virus DNA.

Published in:

Journal of Medical Virology, 2001, v. 65, n. 2, p. 250, doi. 10.1002/jmv.2027

By:

Chen, Ren Wei;
Piiparinen, Heli;
Seppänen, Mikko;
Koskela, Pentti;
Sarna, Seppo;
Lappalainen, Maija

Publication type:

Article

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

Published in:

Frontiers in Immunology, 2023, v. 13, p. 01, doi. 10.3389/fimmu.2022.1130418

By:

Martelius, Timi;
Seppänen, Mikko R. J.;
Warnatz, Klaus

Publication type:

Article

Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.

Published in:

Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.819929

By:

Pernaa, Nora;
Keskitalo, Salla;
Chowdhury, Iftekhar;
Nissinen, Antti;
Glumoff, Virpi;
Keski-Filppula, Riikka;
Junttila, Juhani;
Eklund, Kari K.;
Santaniemi, Wenny;
Siitonen, Sanna;
Seppänen, Mikko R. J.;
Vähäsalo, Paula;
Varjosalo, Markku;
Åström, Pirjo;
Hautala, Timo

Publication type:

Article

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.

Published in:

Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02770

By:

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

Publication type:

Article

Behçet disease (BD) and BD‐like clinical phenotypes: NF‐κB pathway in mucosal ulcerating diseases.

Published in:

Scandinavian Journal of Immunology, 2020, v. 92, n. 5, p. 1, doi. 10.1111/sji.12973

By:

Perazzio, Sandro F.;
Allenspach, Eric J.;
Eklund, Kari K.;
Varjosalo, Markku;
Shinohara, Michi M.;
Torgerson, Troy R.;
Seppänen, Mikko R. J.

Publication type:

Article

Primary Immunodeficiency, a Possible Cause of Neutrophilic Necrotizing Dermatosis.

Published in:

2019

By:

Kaustio, Meri;
Hautala, Timo;
Seppänen, Mikko R. J.

Publication type:

Letter

Tonsillar granuloma associated with hypogammaglobulinemia.

Published in:

Allergy, Asthma & Clinical Immunology, 2020, v. 16, n. 1, p. 1, doi. 10.1186/s13223-020-00441-1

By:

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

Publication type:

Article

Beneficial effect of clarithromycin in patients with acute coronary syndrome and complement C4 deficiencies.

Published in:

Scandinavian Cardiovascular Journal, 2009, v. 43, n. 6, p. 395, doi. 10.1080/14017430902874305

By:

Paakkanen, Riitta;
Palikhe, Anil;
Seppänen, Mikko;
Nieminen, Markku S.;
Vauhkonen, Hanna;
Saikku, Pekka;
Lokki, Marja-Liisa;
Sinisalo, Juha

Publication type:

Article

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

Published in:

Expert Review of Clinical Immunology, 2014, v. 10, n. 1, p. 1, doi. 10.1586/1744666X.2014.870478

By:

Seppänen, Mikko;
Aghamohammadi, Asghar;
Rezaei, Nima

Publication type:

Article

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland.

Published in:

Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01190

By:

Selenius, Jannica S.;
Martelius, Timi;
Pikkarainen, Sampsa;
Siitonen, Sanna;
Mattila, Eero;
Pietikäinen, Risto;
Suomalainen, Pekka;
Aalto, Arja H.;
Saarela, Janna;
Einarsdottir, Elisabet;
Järvinen, Asko;
Färkkilä, Martti;
Kere, Juha;
Seppänen, Mikko

Publication type:

Article

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

Published in:

Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00422

By:

Wolin, Annika;
Lahtela, Elisa Laura;
Anttila, Verneri;
Petrek, Martin;
Grunewald, Johan;
van Moorsel, Coline H. M.;
Eklund, Anders;
Grutters, Jan C.;
Kolek, Vitezslav;
Mrazek, Frantisek;
Kishore, Amit;
Padyukov, Leonid;
Pietinalho, Anne;
Ronninger, Marcus;
Seppänen, Mikko;
Selroos, Olof;
Lokk, Marja-Liisa

Publication type:

Article

Recurrent lymphocytic meningitis positive for herpes simplex virus type 2.

Published in:

2009

By:

Kallio-Laine K;
Seppänen M;
Kautiainen H;
Lokki ML;
Lappalainen M;
Valtonen V;
Färkkilä M;
Kalso E;
Kallio-Laine, Katariina;
Seppänen, Mikko;
Kautiainen, Hannu;
Lokki, Marja Liisa;
Lappalainen, Maija;
Valtonen, Ville;
Färkkilä, Markus;
Kalso, Eija

Publication type:

journal article

Recurrent Lymphocytic Meningitis Positive for Herpes Simplex Virus Type 2.

Published in:

Emerging Infectious Diseases, 2009, v. 15, n. 7, p. 1119, doi. 10.3201/eid1507.080716

By:

Kallio-Laine, Katariina;
Seppänen, Mikko;
Kautiainen, Hannu;
Lokki, Marja-Liisa;
Lappalainen, Maija;
Valtonen, Ville;
Färkkilä, Markus;
Kalso, Eija

Publication type:

Article

Myiasis during Adventure Sports Race.

Published in:

Emerging Infectious Diseases, 2004, v. 10, n. 1, p. 137, doi. 10.3201/eid1001.020825

By:

Seppänen, Mikko;
Virolainen-Julkunen, Anni;
Kakko, Iiro;
Vilkamaa, Pekka;
Meri, Seppo

Publication type:

Article

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

Published in:

Pharmaceuticals (14248247), 2021, v. 14, n. 8, p. 797, doi. 10.3390/ph14080797

By:

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

Publication type:

Article

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

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091450

By:

Kotilainen, Hannele;
Lokki, Marja-Liisa;
Paakkanen, Riitta;
Seppänen, Mikko;
Tukiainen, Pentti;
Meri, Seppo;
Poussa, Tuija;
Eskola, Jussi;
Valtonen, Ville;
Järvinen, Asko

Publication type:

Article

Diversity of Extended <i>HLA-DRB1</i> Haplotypes in the Finnish Population.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079690

By:

Wennerström, Annika;
Vlachopoulou, Efthymia;
Lahtela, L. Elisa;
Paakkanen, Riitta;
Eronen, Katja T.;
Seppänen, Mikko;
Lokki, Marja-Liisa

Publication type:

Article

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

Published in:

PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038813

By:

Paakkanen, Riitta;
Vauhkonen, Hanna;
Eronen, Katja T.;
Järvinen, Asko;
Seppänen, Mikko;
Lokki, Marja-Liisa

Publication type:

Article

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01867-1

By:

Lima de Souza, Suiane;
Asano, Takaki;
Glumoff, Virpi;
Keskitalo, Salla;
Pikkarainen, Keela;
Martelius, Timi;
Kaustio, Meri;
Saarela, Janna;
Kuismin, Outi;
Lappi-Blanco, Elisa;
Jartti, Airi;
Yannopoulos, Fredrik;
Tiitto, Leena;
Seppänen, Mikko R. J.;
Boisson, Bertrand;
Casanova, Jean-Laurent;
Varjosalo, Markku;
Hautala, Timo;
Chen, Zhi

Publication type:

Article

Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01756-z

By:

Hautala, Timo;
Perelygina, Ludmila;
Salmenniemi, Urpu;
Seppänen, Mikko R. J.;
Martelin, Eeva;
Lindström, Vesa;
Heiskanen, Jouni;
Harju, Terttu;
Jartti, Airi;
Jackson, Päivi;
Tasanen, Kaisa;
Kuismin, Outi;
Tuominen, Hannu;
Sullivan, Kathleen E.;
Bryceson, Yenan

Publication type:

Article

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

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 5, p. 1007, doi. 10.1007/s10875-023-01461-3

By:

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

Publication type:

Article

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

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 358, doi. 10.1007/s10875-022-01375-6

By:

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

Publication type:

Article

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.

Published in:

Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1508, doi. 10.1007/s10875-022-01352-z

By:

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

Publication type:

Article

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

Published in:

Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1473, doi. 10.1007/s10875-022-01289-3

By:

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

Publication type:

Article

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

Published in:

2022

By:

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.

Publication type:

Correction Notice

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

Published in:

Journal of Clinical Immunology, 2022, v. 42, n. 6, p. 1293, doi. 10.1007/s10875-022-01274-w

By:

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.

Publication type:

Article

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.

Published in:

Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 1064, doi. 10.1007/s10875-021-01007-5

By:

Vakkilainen, Svetlana;
Klemetti, Paula;
Martelius, Timi;
Seppänen, Mikko JR;
Mäkitie, Outi;
Toiviainen-Salo, Sanna

Publication type:

Article

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

Published in:

Journal of Clinical Immunology, 2021, v. 41, n. 3, p. 666, doi. 10.1007/s10875-021-00980-1

By:

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

Publication type:

Article

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1156, doi. 10.1007/s10875-020-00834-2

By:

Partanen, Terhi;
Chen, Jie;
Lehtonen, Johanna;
Kuismin, Outi;
Rusanen, Harri;
Vapalahti, Olli;
Vaheri, Antti;
Anttila, Veli-Jukka;
Bode, Michaela;
Hautala, Nina;
Vuorinen, Tytti;
Glumoff, Virpi;
Kraatari, Minna;
Åström, Pirjo;
Saarela, Janna;
Kauma, Heikki;
Lorenzo, Lazaro;
Casanova, Jean-Laurent;
Zhang, Shen-Ying;
Seppänen, Mikko

Publication type:

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.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 576, doi. 10.1007/s10875-020-00754-1

By:

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

Publication type:

Article

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

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 503, doi. 10.1007/s10875-020-00745-2

By:

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.

Publication type:

Article

Immunoglobulin E—an Innocent Bystander in Host Defense?

Published in:

2018

By:

Zhang, Qian;
Seppänen, Mikko R. J.

Publication type:

Editorial

Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.

Published in:

2018

By:

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.

Publication type:

Letter

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

Published in:

Journal of Clinical Immunology, 2017, v. 37, n. 7, p. 650, doi. 10.1007/s10875-017-0426-2

By:

Sullivan, Kathleen;
Bassiri, Hamid;
Bousfiha, Ahmed;
Costa-Carvalho, Beatriz;
Freeman, Alexandra;
Hagin, David;
Lau, Yu;
Lionakis, Michail;
Moreira, Ileana;
Pinto, Jorge;
Moraes-Pinto, M.;
Rawat, Amit;
Reda, Shereen;
Reyes, Saul;
Seppänen, Mikko;
Tang, Mimi

Publication type:

Article

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

Published in:

2017

By:

Sullivan, Kathleen;
Bassiri, Hamid;
Bousfiha, Ahmed;
Costa-Carvalho, Beatriz;
Freeman, Alexandra;
Hagin, David;
Lau, Yu;
Lionakis, Michail;
Moreira, Ileana;
Pinto, Jorge;
Isabel de Moraes-Pinto, M.;
Rawat, Amit;
Reda, Shereen;
Reyes, Saul;
Seppänen, Mikko;
Tang, Mimi

Publication type:

Erratum

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

Published in:

Journal of Clinical Immunology, 2014, v. 34, n. 1, p. 114, doi. 10.1007/s10875-013-9966-2

By:

Seppänen, Mikko;
Koillinen, Hannele;
Mustjoki, Satu;
Tomi, Mölkänen;
Sullivan, Kathleen

Publication type:

Article

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.

Published in:

NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0088-5

By:

Keskitalo, Salla;
Haapaniemi, Emma M.;
Glumoff, Virpi;
Liu, Xiaonan;
Lehtinen, Ville;
Fogarty, Christopher;
Rajala, Hanna;
Chiang, Samuel C.;
Mustjoki, Satu;
Kovanen, Panu;
Lohi, Jouko;
Bryceson, Yenan T.;
Seppänen, Mikko;
Kere, Juha;
Heiskanen, Kaarina;
Varjosalo, Markku

Publication type:

Article

Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.

Published in:

Acta Dermato-Venereologica, 2019, v. 99, n. 9, p. 789, doi. 10.2340/00015555-3203

By:

VAKKILAINEN, Svetlana;
PUHAKKA, Laura;
KLEMETTI, Paula;
HEISKANEN, Kaarina;
SEPPÄNEN, Mikko;
MUONA, Mikko;
POSSEME, Celine;
DUFFY, Darragh;
VÄISÄNEN, Timo;
ELOMAA, Outi;
PALOMÄKI, Maarit;
SAXÉN, Harri;
RANKI, Annamari;
HANNULA-JOUPPI, Katariina

Publication type:

Article

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

Published in:

Acta Ophthalmologica (1755375X), 2014, v. 92, n. 1, p. 71, doi. 10.1111/aos.12029

By:

JärvENtausta, Petri J.;
HolopainEN, Juha M.;
ZalENtein, Waldir N.;
PaakkanEN, Riitta;
WENnerström, Annika;
SeppänEN, Mikko;
Lokki, Marja ‐ Liisa;
Tervo, Timo M. T.

Publication type:

Article

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

Published in:

Nature Genetics, 2014, v. 46, n. 8, p. 812, doi. 10.1038/ng.3040

By:

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

Publication type:

Article

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

Published in:

Clinical Chemistry, 2017, v. 63, n. 9, p. 1539, doi. 10.1373/clinchem.2017.273458

By:

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