Mikko R. J. Seppänen

发表

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

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

Somatic mutations and T-cell clonality in patients with immunodeficiency

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

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.

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

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

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

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

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.

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.

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.

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.