Autoinflammatory & rare systemic diseases
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome
Authors' conclusion
While confirming the core organ features (lung, joint, and kidney) of the disease, our data expand the phenotype to include cardiac, skin, and gastrointestinal features, further demonstrating the clinical overlap with SAVI and other type I interferonopathies.
Study context
- Population
- Individuals (29 families) carrying a COPA mutation, multicentric European cohort29 families
- Participants
- 46 individuals
- Outcome
- Clinical phenotype of COPA syndrome
Methodological detailsmulticentre, European cohort
- Multicentre
- European cohort
Main finding
As reported in the abstract
- Clinical penetrance (≥1 clinical manifestation likely related to mutant state)
- 38 (83%)
- Female symptomatic patients
- 22 (58%)
- Median age at disease onset
- 3 years (range 0-50 years)
- Pulmonary involvement
- 34
- ILD
- 31
- Diffuse alveolar haemorrhage
- 11
- Joint involvement
- 26
- Kidney disease
- 7
- Skin involvement (previously undescribed)
- 12
- Cardiac involvement (previously undescribed)
- 8
- Gastrointestinal involvement (previously undescribed)
- 7
- Hepatic involvement (previously undescribed)
- 5
Observational data: associations, not effects.
Further findings
Treatment with JAKi
- Patients treated with JAKi, with promising efficacy
- 22
Original publication
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome. Ann Rheum Dis. Published 25 October 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →