COPA Syndrome—From Pathogenesis to Treatment

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 autoantibodi...

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Bibliographic Details
Published in:Diagnostics (Basel) 2024-12, Vol.14 (24), p.2819
Main Authors: Padureanu, Vlad, Forțofoiu, Mircea-Cătălin, Donoiu, Ionut, Tieranu, Eugen-Nicolae, Dumitrascu, Catalin, Padureanu, Rodica, Mușetescu, Anca Emanuela, Alexandru, Cristina, Iorgus, Carmen Catalina, Bobirca, Florin, Dascalu, Ana, Bobirca, Anca
Format: Article
Language:English
Subjects:
Antibodies
Arthritis
Autoantibodies
Autoimmunity
Care and treatment
COPA syndrome
Development and progression
diffuse alveolar hemorrhaging
Disease
Genetic testing
Health aspects
immune dysregulation
Immunology
Interferon
interstitial lung disease
Kidneys
Kinases
Localization
Lung diseases
Mutation
Pathophysiology
Proteins
Review
Transplants & implants
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Description
Summary: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.
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics14242819