Call for observations - COPA syndrome

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COPA syndrome is a recently defined type I interferonopathy caused by heterozygous mutations in the gene COPA, encoding coatomer protein subunit alpha that is involved in intra-cellular transport of cargo proteins1. Although the pathogenesis is not fully understood, mutations in COPA were shown to cause an accumulation of STING at the Golgi2 where it is activated and leads to constitutive type I interferon signalling i.e. the core feature of type I interferonopathies.

Since the initial description of COPA syndrome in 2015, less than 70 cases have been reported in the literature. COPA syndrome is mainly characterised by the clinical triad associating lung involvement (recurrent intra-alveolar haemorrhage or interstitial lung disease), joint and kidney disease. Anti-nuclear antibodies, rheumatoid factor and/or ANCA are frequently positive.

We have already gathered several cases of COPA syndrome that allowed to describe isolated organ involvement3 or novel associated features (skin disease or hepatic involvement).  

Our work aims to:

  • Collect the largest European cohort of COPA patients in order to better delineate the clinical and immunological phenotype of this rare disorder and describe therapeutic responses to immunosuppressive or specifically targeted drugs such as JAK1/2 inhibitors.
  • Improve our understanding of disease pathogenesis at the cellular and molecular level taking advantage of cutting edge techniques at the Imagine Institute (Paris, France).

If you are following a patient with a molecularly-defined COPA syndrome or with a clinical suspicion of COPA syndrome, and willing to collaborate with us, please contact us: or

Best regards,

Dr Clémence David and Dr Marie-Louise Frémond

Laboratory of Neurogenetics and Neuroinflammation – Pr Crow

Imagine Institute - INSERM U1163

24 boulevard du Montparnasse

75015 Paris – FRANCE

Twitter account: @crow_lab

1. Watkin, L. B. et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet 47, 654–660 (2015).

2. Lepelley, A. et al. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling. J Exp Med 217, (2020).

3. Bader-Meunier, B. et al. Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associated with a novel COPA mutation. Rheumatology (Oxford) 60, e171–e173 (2021).