Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

• Published in: Journal of molecular medicine (Berlin, Germany) Vol. 97; no. 5; pp. 633 - 645
• Main Authors: Duplomb, Laurence, Rivière, Julie, Jego, Gaëtan, Da Costa, Romain, Hammann, Arlette, Racine, Jessica, Schmitt, Alain, Droin, Nathalie, Capron, Claude, Gougerot-Pocidalo, Marie-Anne, Dubrez, Laurence, Aral, Bernard, Lafon, Arnaud, Edery, Patrick, Ghoumid, Jamal, Blair, Edward, El Chehadeh-Djebbar, Salima, Carmignac, Virginie, Thevenon, Julien, Guy, Julien, Girodon, François, Bastie, Jean-Noël, Delva, Laurent, Faivre, Laurence, Thauvin-Robinet, Christel, Solary, Eric
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.05.2019; Springer Nature B.V; Springer Verlag
• Subjects: Apoptosis; Biomedical and Life Sciences; Biomedicine; Cell death; Cohen syndrome; Elastase; Endoplasmic reticulum; Genetic disorders; Glycosylation; Golgi apparatus; Human Genetics; Intercellular adhesion molecule 1; Internal Medicine; Leukocyte migration; Leukocytes (neutrophilic); Life Sciences; Localization; Molecular Medicine; Neutropenia; Neutrophils; Original Article; Cohen syndrome; Neutropenia; Apoptosis; Serpin B1

Cohen syndrome (CS) is a rare genetic disorder due to mutations in VPS13B gene. Among various clinical and biological features, CS patients suffer from inconsistent neutropenia, which is associated with recurrent but minor infections. We demonstrate here that this neutropenia results from an exagger...