Associated Papers
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.
David C et al.
Annals of the Rheumatic Diseases, 2025
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.
Zheng Y et al.
Molecular Genetics & Genomic Medicine, 2024
COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.
Simchoni N et al.
Rheumatic Diseases Clinics of North America, 2023
A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.
Zeng J et al.
Frontiers in Pediatrics, 2021
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.
Lepelley A et al.
The Journal of Experimental Medicine, 2020
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
Taveira-DaSilva AM et al.
Journal of Medical Genetics, 2019
An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations.
Patwardhan A et al.
Pediatric Rheumatology Online Journal, 2019
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