Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
About this item
Full title
Author / Creator
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 and Solary, Eric
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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 exaggerate rate of neutrophil apoptosis. Besides th...
Alternative Titles
Full title
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04522429v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04522429v1
Other Identifiers
ISSN
0946-2716
E-ISSN
1432-1440
DOI
10.1007/s00109-019-01754-4
