M. Seppänen

发表

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

M. Varjosalo, J. Junttila, S. Keskitalo, 2022, Frontiers in Immunology.

Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.

J. Kere, M. Varjosalo, T. Hautala, 2022, Clinical immunology.

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

M. Varjosalo, A. Liston, Flaminia C Lorenzetti, 2022, Frontiers in Immunology.

STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.

Timothy J. Peters, S. Mustjoki, S. Tangye, 2022, Immunity.

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

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

J. Franco, A. Bousfiha, L. Jeddane, 2022, Journal of Clinical Immunology.

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

M. Seppänen, 2018, The Journal of allergy and clinical immunology.

Gain-of-function CEBPE mutation causes non-canonical autoinflammatory inflammasomopathy.

J. Kere, D. Greco, S. Nejentsev, 2019, The Journal of allergy and clinical immunology.

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

J. Kere, S. Mustjoki, S. Katayama, 2017, The Journal of allergy and clinical immunology.

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.

T. Tapiainen, L. Dupré, A. Hekkala, 2021, Blood.

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.

J. Kere, S. Mustjoki, S. Katayama, 2017, The Journal of allergy and clinical immunology.

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

M. Varjosalo, S. Keskitalo, R. Kaarteenaho, 2018, RMD Open.

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

T. Torgerson, M. Varjosalo, E. Allenspach, 2020, Scandinavian journal of immunology.

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

M. Varjosalo, S. Keskitalo, R. Kaarteenaho, 2018, bioRxiv.

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

M. Varjosalo, S. Keskitalo, R. Kaarteenaho, 2018, RMD Open.

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

O. Pietiläinen, L. Aaltonen, J. Niinimäki, 2019, Nature Communications.

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

J. Casanova, C. Wouters, L. Notarangelo, 2022, Science.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature Medicine.

Impact of constitutional TET 2 haploinsufficiency on molecular and clinical phenotype in humans Kaasinen , Eevi 2019-03-19

L. Aaltonen, J. Taipale, P. Vahteristo, 2022 .

Human genetic and immunological determinants of critical COVID-19 pneumonia

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature.

Diagnostics of rare disorders

J. Casanova, K. Jahnukainen, J. Saarela, 2022 .

Overactive STAT3 drives accumulation of disease-associated CD21low B cells

Timothy J. Peters, S. Mustjoki, S. Tangye, 2021, bioRxiv.

The evolution of cellular deficiency in GATA2 mutation.

N. McGovern, J. Dick, M. Haniffa, 2014, Blood.

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

J. Kere, S. Mustjoki, E. Morgunova, 2019, Front. Immunol..

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

J. Casanova, K. Jahnukainen, J. Saarela, 2018, Orphanet Journal of Rare Diseases.

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

C. Feighery, G. Kindle, L. Devlin, 2022, Journal of Clinical Immunology.

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

J. Kere, S. Mustjoki, M. Varjosalo, 2020, Journal of Clinical Immunology.

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Journal of Clinical Immunology.

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

A. Palotie, K. Porkka, T. Hautala, 2016, European Journal of Human Genetics.

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

A. Palotie, K. Porkka, T. Hautala, 2016, European Journal of Human Genetics.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

A. Gennery, A. Worth, L. Hammarström, 2019, The Journal of allergy and clinical immunology.

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Mark S. Anderson, Chun Jimmie Ye, Gabriela K. Fragiadakis, 2022, Science immunology.

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

J. Kere, A. Hattersley, Å. Lernmark, 2014, Nature Genetics.

Somatic mutations and T-cell clonality in patients with immunodeficiency

H. Lähdesmäki, S. Mustjoki, P. Kovanen, 2019, Haematologica.

STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological dysregulation of NKG2Dhi CD8 killer T cells

Timothy J. Peters, S. Mustjoki, S. Tangye, 2022, bioRxiv.

Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.

J. Kere, J. Saarela, K. Kettunen, 2019, Journal of the American Academy of Dermatology.

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

J. Kere, S. Mustjoki, P. Kovanen, 2015, Blood.

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

M. Varjosalo, O. Silvennoinen, S. Keskitalo, 2021, Pharmaceuticals.

The evolution of cellular de fi ciency in GATA 2 mutation

N. McGovern, J. Dick, M. Haniffa, 2014 .

Characterization of novel TMEM173 mutation with additive IFIH1 risk allele

J. Kere, S. Mustjoki, E. Morgunova, 2018, bioRxiv.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

J. Kere, S. Mustjoki, M. Varjosalo, 2019, npj Genomic Medicine.

Immunoglobulin E—an Innocent Bystander in Host Defense?

Qian Zhang, M. Seppänen, 2018, Journal of Clinical Immunology.

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Mark S. Anderson, J. Casanova, J. Fellay, 2022, Journal of Allergy and Clinical Immunology.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

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

S. Tangye, L. Forbes, J. Milner, 2017, Clinical chemistry.

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

E. Kalso, J. Sinisalo, A. Vaheri, 2022, EBioMedicine.

Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.

P. Robinson, K. Boztug, M. Seidel, 2020, The journal of allergy and clinical immunology. In practice.

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

S. Mustjoki, K. Sullivan, H. Koillinen, 2013, Journal of Clinical Immunology.

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

S. Mustjoki, K. Sullivan, H. Koillinen, 2013, Journal of Clinical Immunology.

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

J. Kere, M. Varjosalo, S. Keskitalo, 2022, Journal of Clinical Immunology.

A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment

M. Varjosalo, S. Keskitalo, R. Kaarteenaho, 2020, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

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

V. Glumoff, T. Hautala, J. Saarela, 2023, Journal of Clinical Immunology.

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

J. Kettunen, T. Hautala, M. Järvelin, 2023, EBioMedicine.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Laura E. Covill, P. Gregersen, J. Casanova, 2022, The Journal of experimental medicine.

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

J. Casanova, J. Franco, A. Bousfiha, 2022, Journal of Clinical Immunology.

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

D. Duffy, A. Ranki, M. Palomäki, 2019, Acta Dermato-Venereologica.

Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome.

K. Schwarz, M. Weinrich, F. Rieux-Laucat, 2022, The Journal of allergy and clinical immunology.

Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study.

N. Rezaei, A. Velayati, Niusha Sharifinejad, 2022, Allergologia et immunopathologia.

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

J. Kere, S. Mustjoki, M. Varjosalo, 2019, npj Genomic Medicine.

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

S. Ehl, R. Krüger, H. von Bernuth, 2023, Journal of Clinical Immunology.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.