Defective immuno- and thymoproteasome assembly causes severe immunodeficiency

• Published in: Scientific reports Vol. 8; no. 1; pp. 5975 - 18
• Main Authors: Treise, Irina, Huber, Eva M., Klein-Rodewald, Tanja, Heinemeyer, Wolfgang, Grassmann, Simon A., Basler, Michael, Adler, Thure, Rathkolb, Birgit, Helming, Laura, Andres, Christian, Klaften, Matthias, Landbrecht, Christina, Wieland, Thomas, Strom, Tim M., McCoy, Kathy D., Macpherson, Andrew J., Wolf, Eckhard, Groettrup, Marcus, Ollert, Markus, Neff, Frauke, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě de Angelis, Martin, Groll, Michael, Busch, Dirk H.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 13.04.2018; Nature Publishing Group
• Subjects: 14/63; 45/23; 45/47; 631/250/1933; 631/250/249/2512; 631/337/474/2085; 631/80/304; 631/80/474/2085; 64/60; 82/51; 82/83; 96/21; Amino acids; Cell survival; Endopeptidases; Ethyl nitrosourea; Evolution; Heterozygotes; Homozygotes; Humanities and Social Sciences; Immunopathogenesis; Lymphocytes T; multidisciplinary; Mutagenesis; Mutation; Phenotypes; Point mutation; Proteasomes; Science; Science (multidisciplinary); Severe combined immunodeficiency; Yeast

By N-ethyl-N-nitrosourea (ENU) mutagenesis, we generated the mutant mouse line TUB6 that is characterised by severe combined immunodeficiency (SCID) and systemic sterile autoinflammation in homozygotes, and a selective T cell defect in heterozygotes. The causative missense point mutation results in...