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Review
. 2024 Dec 14;14(24):2819.
doi: 10.3390/diagnostics14242819.

COPA Syndrome-From Pathogenesis to Treatment

Vlad Padureanu  1 , Mircea-Cătălin Forțofoiu  1 , Ionut Donoiu  2 , Eugen-Nicolae Tieranu  2 , Catalin Dumitrascu  3 , Rodica Padureanu  1 , Anca Emanuela Mușetescu  4 , Cristina Alexandru  3   5 , Carmen Catalina Iorgus  3 , Florin Bobirca  6 , Ana Dascalu  7 , Anca Bobirca  3   5
Affiliations
Review

COPA Syndrome-From Pathogenesis to Treatment

Vlad Padureanu et al. Diagnostics (Basel). .

Abstract

Coatomer subunit α (COPA) syndrome is a mendelian autosomal dominant immune dysregulation disease characterized by early onset lung disease in the form of diffuse alveolar hemorrhaging or interstitial lung disease, frequently associated with arthritis, glomerulonephritis, and high titer autoantibodies usually mimicking other autoimmune diseases. While immunosuppressive medication has been effective in controlling arthritis, data on long-term lung disease control remains scarce, which poses a real challenge as the progression of lung disease is the main cause of poor life expectancy in COPA patients. Nevertheless, JAK inhibitor therapy seems to be the most promising therapeutic choice now.

Keywords: COPA syndrome; arthritis; diffuse alveolar hemorrhaging; immune dysregulation; interstitial lung disease.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Anterograde and retrograde transport of STING.
See this image and copyright information in PMC

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