A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease
Staels, Frederik, Lorenzetti, Flaminia, De Keukeleere, Kerstin, Willemsen, Mathijs, Gerbaux, Margaux, Neumann, Julika, Tousseyn, Thomas, Pasciuto, Emanuela, De Munter, Paul, Bossuyt, Xavier, Gijsbers, Rik, Liston, Adrian, Humblet-Baron, Stephanie, Schrijvers, Rik
Published in Journal of clinical immunology (01.11.2022)
Published in Journal of clinical immunology (01.11.2022)
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Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations
Staels, Frederik, De Keukeleere, Kerstin, Kinnunen, Matias, Keskitalo, Salla, Lorenzetti, Flaminia, Vanmeert, Michiel, Prezzemolo, Teresa, Pasciuto, Emanuela, Lescrinier, Eveline, Bossuyt, Xavier, Gerbaux, Margaux, Willemsen, Mathijs, Neumann, Julika, Van Loo, Sien, Corveleyn, Anniek, Willekens, Karen, Stalmans, Ingeborg, Meyts, Isabelle, Liston, Adrian, Humblet-Baron, Stephanie, Seppänen, Mikko, Varjosalo, Markku, Schrijvers, Rik
Published in Frontiers in immunology (20.09.2022)
Published in Frontiers in immunology (20.09.2022)
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Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants
Heinz, Johanna L., Swagemakers, Sigrid M. A., von Hofsten, Joanna, Helleberg, Marie, Thomsen, Michelle M., De Keukeleere, Kerstin, de Boer, Joke H., Ilginis, Tomas, Verjans, Georges M. G. M., van Hagen, Peter M., van der Spek, Peter J., Mogensen, Trine H.
Published in Frontiers in molecular neuroscience (2023)
Published in Frontiers in molecular neuroscience (2023)
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Impaired STING Activation Due to a Variant in the E3 Ubiquitin Ligase AMFR in a Patient with Severe VZV Infection and Hemophagocytic Lymphohistiocytosis
Thomsen, Michelle Mølgaard, Skouboe, Morten Kelder, Møhlenberg, Michelle, Zhao, Jian, de Keukeleere, Kerstin, Heinz, Johanna Laura, Werner, Marvin, Hollensen, Anne Kruse, Lønskov, Jonas, Nielsen, Ian, Carter-Timofte, Madalina Elena, Zhang, Baocun, Mikkelsen, Jacob Giehm, Fisker, Niels, Paludan, Søren R., Assing, Kristian, Mogensen, Trine H.
Published in Journal of clinical immunology (01.02.2024)
Published in Journal of clinical immunology (01.02.2024)
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A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity
Assing, Kristian, Jørgensen, Sofie E., Sandgaard, Katrine S., De Keukeleere, Kerstin, B.-Hansen, Marie, Petersen, Mikkel S., Hartling, Ulla B., Vaal, Thanis M. K.-de, Nielsen, Christian, Jakobsen, Marianne A., Watt, Eleanor, Adams, Stuart, Hao, Qin, Fagerberg, Christina, Mogensen, Trine H.
Published in Journal of clinical immunology (01.11.2023)
Published in Journal of clinical immunology (01.11.2023)
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