Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.

ABSTRACT:

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 European cohort.

Methods

Methods include assessment of clinical, imaging, and immunological data from 46 individuals (29 families) carrying a COPA mutation.

Results

Among the 46 individuals carrying a COPA mutation, 38 had at least 1 clinical manifestation likely related to their mutant state (clinical penetrance of 83%). Twenty-two (58%) symptomatic patients w

SUBMITTER: David C 

PROVIDER: S-EPMC7618534 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature