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Article

Type I interferon pathway activation in COPA syndrome.

Clinical immunology (Orlando, Fla.) - 1 Feb 2018

Volpi Stefano, Tsui Jessica, Mariani Marcello, Pastorino Claudia, Caorsi Roberta, Sacco Oliviero, Ravelli Angelo, Shum Anthony K, Gattorno Marco, Picco Paolo

Abstract excerpt

Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. We report the case of a young girl that presented at age 3 with polyarticular arthritis, chronic cough and high titer rheumatoid factor. Radiologic imaging showed interstitial lung disease with tree-in-a-bud nodules and air-filled cysts....

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Source

Identifiers

PMID: 29030294
DOI: 10.1016/j.clim.2017.10.001

Genes

COPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Type I interferon pathway activation in COPA syndrome.PMID 29030294Read ↗

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

Augmentation of Stimulator of Interferon Genes-Induced Type I Interferon Production in COPA Syndrome.Semantic proximity Read ↗

An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutationsSemantic proximity Read ↗

Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory DiseaseSemantic proximity Read ↗

STING-Mediated Lung Inflammation and Beyond.Semantic proximity Read ↗

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinﬂammatory syndrome.Semantic proximity Read ↗

Activation of STING due to COPI-deficiencySemantic proximity Read ↗

Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation.Semantic proximity Read ↗

COPA Syndrome as a Cause of Lupus NephritisSemantic proximity Read ↗

A defect in thymic tolerance causes T cell-mediated autoimmunity in a murine model of COPA syndromeSemantic proximity Read ↗

A Defect in Thymic Tolerance Causes T Cell-Mediated Autoimmunity in a Murine Model of COPA Syndrome.Semantic proximity Read ↗

Interstitial lung disease and the STING pathway.Semantic proximity Read ↗

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