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The Journal of Allergy and Clinical Immunology|May 13, 2026
Homozygous loss-of-function mutation in SIT1 leads to combined immunodeficiency due to dysregulated T cell receptor signalingPu Chen, Kim My Le, Weiwei Li, et al.The Journal of Allergy and Clinical Immunology|July 27, 2025
Heterozygous loss of MAP4K1 causes immune dysregulation by amplifying T-cell responsesMeri Kaustio, Monika Szymanska, Weiwei Li, et al.Science Immunology|November 26, 2021
Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cellsIivo Hetemäki, Meri Kaustio, Matias Kinnunen, et al.The Journal of Allergy and Clinical Immunology|January 25, 2017
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypesMeri Kaustio, Emma Haapaniemi, Helka Göös, et al.Blood|October 29, 2014
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3Emma M Haapaniemi, Meri Kaustio, Hanna L M Rajala, et al.Cell Reports. Medicine|April 9, 2024
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitisKatariina Nurmi, Kristiina Silventoinen, Salla Keskitalo, et al.The Journal of Allergy and Clinical Immunology|March 4, 2021
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunctionMeri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, et al.Pageof 2