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.
References
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
KENNETH W. YIP 