Article
The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.
The Journal of experimental medicine - 6 Apr 2026
David Clémence, Wauquier Tifenn, de Becdelièvre Alix, Louvrier Camille, Tusseau Maud, Masson Cécile, Seabra Luis, Kannengiesser Caroline, Al Arab Hayssam, Ba Ibrahima, Brennan Mary, Belot Alexandre, Nathan Nadia, Maillard Hélène, Reumaux Héloïse, Sellam Jérémie, Cadranel Jacques, Hatchuel Yves, Weiss Laurence, de Almeida Sébastien, Rames Cinthia, Wislez Marie, Vigier Clémentine, Labouret Géraldine, Kastner Claire, Provot François, Tarabeux Julien, Schaefer Elise, Duffy Darragh, Bondet Vincent, Bastard Paul, Puel Anne, Casanova Jean-Laurent, Rice Gillian I, Bader-Meunier Brigitte, Crow Yanick J, Lepelley Alice, Frémond Marie-Louise
Abstract excerpt
COPA syndrome is a rare monogenic autoinflammatory disease due to heterozygous mutations in COPA, encoding the coatomer subunit α. COPA syndrome demonstrates phenotypic overlap with STING-associated vasculopathy with onset in infancy (SAVI), the latter due to gain-of-function mutations in STING1. Indeed, STING activation is a key driver of the pathogenesis of COPA syndrome, and a recent report suggested that the...
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