Trial reportJournal of medical genetics2019
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
Trial report in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 70 citations in OpenAlex.
- A Rare Case of COPA Syndrome: Multisystem Relapse and Fatal Septic Complication.Respirology case reports · 2026Article
- Genetic Familial Interstitial Lung Disease.Clinics in chest medicine · 2025Review
- Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.Nature reviews. Rheumatology · 2025Review
- COPA Syndrome-From Pathogenesis to Treatment.Diagnostics (Basel, Switzerland) · 2024Review
- Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.The Journal of clinical investigation · 2024Article
- Non-infectious mixed cryoglobulinemia as a new clinical presentation of mutation in the gene encoding coatomer subunit alpha: a case report of two adult sisters.Frontiers in immunology · 2024Article
- Chronic limping in childhood, what else other than juvenile idiopathic arthritis: a case series.Pediatric rheumatology online journal · 2023Article
- COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide.Rheumatic diseases clinics of North America · 2023Review
- Imaging findings of COPA Syndrome.Pediatric radiology · 2023Article
- Childhood-Onset COPA Syndrome Recognized Retrospectively in the Context of Polyarticular Juvenile Idiopathic Arthritis and Rheumatoid Arthritis.Case reports in rheumatology · 2023Article
- Article
- Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis.Frontiers in pediatrics · 2023Review
- Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder.Frontiers in pediatrics · 2023Article
- A toddler with an unusually severe polyarticular arthritis and a lung involvement: a case report.BMC pediatrics · 2022Article
- Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.Annals of the American Thoracic Society · 2022Article
- Deficiency in coatomer complex I causes aberrant activation of STING signalling.Nature communications · 2022Article
- [Autoinflammation-A clinical and genetic challenge].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2022Article
- Biological Treatments and Target Therapies for Pediatric Respiratory Medicine: Not Only Asthma.Frontiers in pediatrics · 2022Article
- Traffic jam within lymphocytes: A clinician's perspective.Frontiers in immunology · 2022Review
- [Autoinflammation-A clinical and genetic challenge].Zeitschrift fur Rheumatologie · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundCopa syndrome is a rare autosomal dominant disorder with abnormal intracellular vesicle trafficking. The objective of this work is to expand the knowledge about this disorder by delineating phenotypic features of an unreported COPA family. METHODS AND
resultsA heterozygous missense variant (c.698 G>A, p.Arg233His) in
conclusionsWorsening severity with successive generations may be observed in Copa syndrome. Extrapulmonary cysts, malignancies, autoimmune neurological disorders and infections are clinical features that may be associated with Copa syndrome. Further studies are indicated to fully define the phenotypic spectrum of this disorder.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.