The STING HAQ haplotype and clinical non-penetrance in COPA syndrome
Clémence Bégo David·Marie-Louise Frémond·Géraldine Labouret·Alix de Becdelièvre·Jérémie Sellam·Claire Kastner·Darragh Duffy·Cinthia Rames·Julien Tarabeux·Luís Seabra·Nadia Nathan·Ibrahima Ba·Cécile Masson·Marie Wislez·Héloïse Reumaux·Mary Brennan·Yves Hatchuel·Vincent Bondet·C. Vigier·Caroline Kannengiesser·C. Louvrier·Alice Lepelley·Gillian I. Rice·Laurence Weiss·Brigitte Bader-Meunier·Anne Puel·Elise Schaefer·Alexandre Belot·Maud Tusseau·Jean-Laurent Casanova·Yanick J. Crow·François Provôt·Hayssam Al Arab·Hélène Maillard·Jacques Cadranel·P. Bastard·Tifenn Wauquier·Sébastien De Almeida
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 presence of the common HAQ STING allele confers complete protection against the deve