Article
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.
Annals of the rheumatic diseases - 1 Mar 2026
David Clémence, Nathan Nadia, Al-Abadi Eslam, Arkwright Peter D, Bader-Meunier Brigitte, Becker Sebastian, Belot Alexandre, Brennan Mary, Breton Sylvain, Bondet Vincent, Cadranel Jacques, Coulomb l'Hermine Aurore, De Almeida Sébastien, Duffy Darragh, Poch Teresa Clavaguera, de Becdelièvre Alix, El Khalifi-Boulisfane Siham, Gattorno Marco, Gispert-Saüch Montse, Gothe Florian, Hatchuel Yves, Herdliczko Daniela, Kilinc Ayse Ayzit, Koucky Vaclav, Labouret Géraldine, Manna Raffaele, Maillard Hélène, Matoses Ruipérez María Luisa, Matucci-Cerinic Caterina, Mensa-Vilaro Anna, Michel Katarzyna, Molina Thierry Jo, Lopez Montesinos Berta, Newman William G, Papenkort Julia, Rapp Christina, Rames Cinthia, Rice Gillian I, Rose Markus A, Reumaux Heloise, Sailler Laurent, Schwerk Nicolaus, Seabra Luis, Sellam Jérémie, Taddio Andrea, Thumerelle Caroline, Tommasini Alberto, Tusseau Maud, Volpi Stefano, Wetzke Martin, Weiss Laurence, Welfringer-Morin Anne, Wislez Marie, Griese Matthias, Crow Yanick J, Frémond Marie-Louise
Abstract excerpt
OBJECTIVES: COPA (coatomer subunit alpha) syndrome is a rare monogenic autoinflammatory disease due to heterozygous mutations in COPA. It has phenotypic overlap with STING (Stimulator of interferon genes)-associated vasculopathy with onset in infancy (SAVI), although the spectrum of clinical manifestations is not yet fully defined. Our aim was to better delineate the clinical phenotype of this rare disorder in a...
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