A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease

por 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
Publicado 2022

A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity

por 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.
Publicado 2023

Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants

por 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.
Publicado 2023

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

por 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
Publicado 2022