Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome

Journal
Journal of Clinical Investigation
ISSN
1558-8238
Date Issued
2024
Author(s)
Selket Delafontaine
Alberto Iannuzzo
Tarin M. Bigley
Bram Mylemans
Ruchit Rana
Pieter Baatsen
Daisy Rymen
Katrien Jansen
Djalila Mekahli
Ingele Casteels
Catherine Cassiman
Philippe Demaerel
Alice Lepelley
Marie-Louise Frémond
Rik Schrijvers
Xavier Bossuyt
Katlijn Vints
Wim Huybrechts
Rachida Tacine
Karen Willekens
Anniek Corveleyn
Bram Boeckx
Marco Baggio
Lisa Ehlers
Sebastian Munck
Diether Lambrechts
Arnout Voet
Leen Moens
Giorgia Bucciol
Megan A. Cooper
Carla M. Davis
Jérôme Delon
Isabelle Meyts
Type
journal-article
Scopus ID
2-s2.0-85185221146
DOI
URL
Cite this document
Delafontaine, S., Iannuzzo, A., Bigley, T. M., Mylemans, B., Rana, R., Baatsen, P., Poli, M. C., Rymen, D., Jansen, K., Mekahli, D., Casteels, I., Cassiman, C., Demaerel, P., Lepelley, A., Frémond, M.-L., Schrijvers, R., Bossuyt, X., Vints, K., Huybrechts, W., … Meyts, I. (2024). Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome. Journal of Clinical Investigation, 134(4), e163604. https://doi.org/10.1172/JCI163604