COPA Syndrome Home

COPA Syndrome is a rare genetic autoimmune condition. This database summarizes the molecular and clinical features of COPA Syndrome.

Disclaimer: The information on this website is based on undergraduate research and does not constitute medical advice.

COPA Syndrome Presentation at 2021 CSB Research Fair


Watkin, L.B. et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nature Genetics. 47(6), 654-660 (2015). DOI: 10.1038/ng.3279

Brennan, M., McDougall, C., Walsh, J., Crow, Y.J., & Davidson, J. COPA syndrome – a new condition to consider when features of polyarthritis and interstitial lung disease are present. Rheumatology. 56(S6) (2017). DOI: 10.1093/rheumatology/kex356.059

Jensson, B.O. et al. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. BMC Medical Genetics. 18(129) (2017). DOI: 10.1186/s12881-017-0490-8

Volpi, S. et al. Type I interferon pathway activation in COPA syndrome. Clinical Immunology. 187, 33-36 (2017). DOI: 10.1016/j.clim.2017.10.001

Noorelahi, R., Perez, G., & Otero, H.J. Imaging findings of Copa syndrome in a 12-year-old boy. 48(2), 279-282 (2018). DOI: 10.1007/s00247-017-3961-3

Patwardhan, A. & Spencer, C.H. An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations. Pediatric Rheumatology. 17(59) (2019). DOI: 10.1186/s12969-019-0359-9

Taveira-DaSilva, A.M. et al. Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features. Journal of Medical Genetics. 56(11), 778-782 (2019). DOI: 10.1136/jmedgenet-2018-105560

Krutzke, S., Rietschel, C., & Horneff, G. Baricitinib in therapy of COPA syndrome in a 15-year-old girl. 7(S1), 1-4 (2019). DOI: 10.5152/eurjrheum.2019.18177