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

The molecular basis of interindividual clinical variability upon infection with is unclear. We describe patients with haploinsufficiency for the linear deubiquitinase OTULIN, encoded by a gene on chromosome 5p. Patients suffer from episodes of life-threatening necrosis, typically triggered by infect...

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Veröffentlicht in:	Science (American Association for the Advancement of Science) 2022-06, Vol.376 (6599), p.eabm6380-eabm6380
Hauptverfasser:	Spaan, András N, Neehus, Anna-Lena, Laplantine, Emmanuel, Staels, Frederik, Ogishi, Masato, Seeleuthner, Yoann, Rapaport, Franck, Lacey, Keenan A, Van Nieuwenhove, Erika, Chrabieh, Maya, Hum, David, Migaud, Mélanie, Izmiryan, Araksya, Lorenzo, Lazaro, Kochetkov, Tatiana, Heesterbeek, Dani A C, Bardoel, Bart W, DuMont, Ashley L, Dobbs, Kerry, Chardonnet, Solenne, Heissel, Søren, Baslan, Timour, Zhang, Peng, Yang, Rui, Bogunovic, Dusan, Wunderink, Herman F, Haas, Pieter-Jan A, Molina, Henrik, Van Buggenhout, Griet, Lyonnet, Stanislas, Notarangelo, Luigi D, Seppänen, Mikko R J, Weil, Robert, Seminario, Gisela, Gomez-Tello, Héctor, Wouters, Carine, Mesdaghi, Mehrnaz, Shahrooei, Mohammad, Bossuyt, Xavier, Sag, Erdal, Topaloglu, Rezan, Ozen, Seza, Leavis, Helen L, van Eijk, Maarten M J, Bezrodnik, Liliana, Blancas Galicia, Lizbeth, Hovnanian, Alain, Nassif, Aude, Bader-Meunier, Brigitte, Neven, Bénédicte, Meyts, Isabelle, Schrijvers, Rik, Puel, Anne, Bustamante, Jacinta, Aksentijevich, Ivona, Kastner, Daniel L, Torres, Victor J, Humblet-Baron, Stéphanie, Liston, Adrian, Abel, Laurent, Boisson, Bertrand, Casanova, Jean-Laurent
Format:	Artikel
Sprache:	eng
Schlagworte:	Accumulation Age Antibodies Bacterial Toxins - immunology Caveolin Caveolin-1 Cell surface Chromosome 5 Chromosome aberrations Chromosome deletion Cri-du-Chat Syndrome - genetics Cri-du-Chat Syndrome - immunology Crosstalk Cytotoxicity Deletion Disease Endopeptidases - genetics Enrichment Fibroblasts Genomes Haploinsufficiency Haploinsufficiency - genetics Haploinsufficiency - immunology Hemolysin Proteins - immunology Heredity Heterozygotes Homogeneity Host-Pathogen Interactions - genetics Host-Pathogen Interactions - immunology Humans Immunity Immunity, Cellular - genetics Infectious diseases Leukocytes Life Sciences Lung diseases Lungs Lysine Metalloproteinase Mutation Necrosis Neutralizing NF-κB protein Patients Phenotypes Receptors Signaling Skin diseases Staphylococcal Infections - genetics Staphylococcal Infections - immunology Staphylococcal Infections - pathology Staphylococcus aureus Staphylococcus infections Toxicity Toxins Tumor necrosis factor Tumor necrosis factor-TNF Variability Virulence Virulence factors
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