Article
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
The Journal of clinical investigation - 4 Jan 2024
Delafontaine Selket, Iannuzzo Alberto, Bigley Tarin M, Mylemans Bram, Rana Ruchit, Baatsen Pieter, Poli Maria Cecilia, Rymen Daisy, Jansen Katrien, Mekahli Djalila, Casteels Ingele, Cassiman Catherine, Demaerel Philippe, Lepelley Alice, Frémond Marie-Louise, Schrijvers Rik, Bossuyt Xavier, Vints Katlijn, Huybrechts Wim, Tacine Rachida, Willekens Karen, Corveleyn Anniek, Boeckx Bram, Baggio Marco, Ehlers Lisa, Munck Sebastian, Lambrechts Diether, Voet Arnout, Moens Leen, Bucciol Giorgia, Cooper Megan A, Davis Carla M, Delon Jérôme, Meyts Isabelle
Abstract excerpt
Mutations in the N-terminal WD40 domain of coatomer protein complex subunit α (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.R1058C, and p.R1142X) in 6 children from 3 unrelated families with a similar syndrome of autoinflammation and autoimmunity. We showed...
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