{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:55:43Z","timestamp":1790744143174,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T00:00:00Z","timestamp":1566864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T00:00:00Z","timestamp":1566864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Rheumatol"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1186\/s12969-019-0359-9","type":"journal-article","created":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T12:03:08Z","timestamp":1566907388000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["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"],"prefix":"10.1186","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1467-1011","authenticated-orcid":false,"given":"Anjali","family":"Patwardhan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles H.","family":"Spencer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,8,27]]},"reference":[{"issue":"2","key":"359_CR1","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/0378-1119(95)00738-5","volume":"169","author":"VT Chow","year":"1996","unstructured":"Chow VT, Quek HH. HEP-COP, a novel human gene whose product is highly homologous to the alpha-subunit of the yeast coatomer protein complex. Gene. 1996;169(2):223\u20137.","journal-title":"Gene."},{"issue":"2","key":"359_CR2","doi-asserted-by":"publisher","first-page":"00017","DOI":"10.1183\/23120541.00017-2018","volume":"4","author":"Jessica L. Tsui","year":"2018","unstructured":"Tsui JL, Estrada OA, Deng Z, Wang KM, Law CS, Elicker BM, et al. Analysis of pulmonary features and treatment approaches in the COPA syndrome. ERJ Open Res. 2018;4(2):00017-2018. \n                    https:\/\/doi.org\/10.1183\/23120541.00017-2018\n                    \n                  .","journal-title":"ERJ Open Research"},{"issue":"6","key":"359_CR3","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1038\/ng.3279","volume":"47","author":"LB Watkin","year":"2015","unstructured":"Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47(6):654\u201360.","journal-title":"Nat Genet"},{"issue":"1","key":"359_CR4","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1186\/s12881-017-0490-8","volume":"18","author":"BO Jensson","year":"2017","unstructured":"Jensson BO, Hansdottir S, Arnadottir GA, Sulem G, Kristjansson RP, Oddsson A, et al. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. BMC Med Genet. 2017;18(1):129.","journal-title":"BMC Med Genet"},{"issue":"4","key":"359_CR5","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1007\/s10875-016-0271-8","volume":"36","author":"TJ Vece","year":"2016","unstructured":"Vece TJ, Watkin LB, Nicholas S, Canter D, Braun MC, Guillerman RP, et al. Copa syndrome: a novel autosomal dominant immune Dysregulatory disease. J Clin Immunol. 2016;36(4):377\u201387.","journal-title":"J Clin Immunol"},{"issue":"5","key":"359_CR6","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1097\/BOR.0000000000000207","volume":"27","author":"AA de Jesus","year":"2015","unstructured":"de Jesus AA, Goldbach-Mansky R. Newly recognized Mendelian disorders with rheumatic manifestations. Curr Opin Rheumatol. 2015;27(5):511\u20139.","journal-title":"Curr Opin Rheumatol"},{"key":"359_CR7","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.clim.2017.10.001","volume":"187","author":"S Volpi","year":"2018","unstructured":"Volpi S, Tsui J, Mariani M, Pastorino C, Caorsi R, Sacco O, et al. Type I interferon pathway activation in COPA syndrome. Clin Immunol. 2018;187:33\u20136.","journal-title":"Clin Immunol"},{"issue":"suppl_6","key":"359_CR8","doi-asserted-by":"publisher","first-page":"kex356.059","DOI":"10.1093\/rheumatology\/kex356.059","volume":"56","author":"M Brennan","year":"2017","unstructured":"Brennan M, McDougall C, Walsh J, Crow YJ, Davidson J. 013. COPA syndrome - a new condition to consider when features of polyarthritis and interstitial lung disease are present. Rheumatology. 2017;56(suppl_6):kex356.059.","journal-title":"Rheumatology"},{"issue":"7616","key":"359_CR9","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285\u201391.","journal-title":"Nature."},{"issue":"1","key":"359_CR10","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/s13073-017-0403-7","volume":"9","author":"Y Kobayashi","year":"2017","unstructured":"Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE. Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Genome Med. 2017;9(1):13.","journal-title":"Genome Med"},{"issue":"8","key":"359_CR11","doi-asserted-by":"publisher","first-page":"L721","DOI":"10.1152\/ajplung.00410.2011","volume":"302","author":"H Tanjore","year":"2012","unstructured":"Tanjore H, Blackwell TS, Lawson WE. Emerging evidence for endoplasmic reticulum stress in the pathogenesis of idiopathic pulmonary fibrosis. Am J Physiol Lung Cell Mol Physiol. 2012;302(8):L721\u20139.","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"issue":"6","key":"359_CR12","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1111\/1756-185X.12290","volume":"17","author":"A Olewicz-Gawlik","year":"2014","unstructured":"Olewicz-Gawlik A, Danczak-Pazdrowska A, Kuznar-Kaminska B, Gornowicz-Porowska J, Katulska K, Trzybulska D, et al. Interleukin-17 and interleukin-23: importance in the pathogenesis of lung impairment in patients with systemic sclerosis. Int J Rheum Dis. 2014;17(6):664\u201370.","journal-title":"Int J Rheum Dis"},{"key":"359_CR13","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1146\/annurev-pathol-011110-130318","volume":"8","author":"CT Weaver","year":"2013","unstructured":"Weaver CT, Elson CO, Fouser LA, Kolls JK. The Th17 pathway and inflammatory diseases of the intestines, lungs, and skin. Annu Rev Pathol. 2013;8:477\u2013512.","journal-title":"Annu Rev Pathol"},{"issue":"10","key":"359_CR14","doi-asserted-by":"publisher","first-page":"2876","DOI":"10.1002\/art.27622","volume":"62","author":"J Leipe","year":"2010","unstructured":"Leipe J, Grunke M, Dechant C, Reindl C, Kerzendorf U, Schulze-Koops H, et al. Role of Th17 cells in human autoimmune arthritis. Arthritis Rheum. 2010;62(10):2876\u201385.","journal-title":"Arthritis Rheum"},{"issue":"9","key":"359_CR15","doi-asserted-by":"publisher","first-page":"888","DOI":"10.1056\/NEJMra0707449","volume":"361","author":"P Miossec","year":"2009","unstructured":"Miossec P, Korn T, Kuchroo VK. Interleukin-17 and type 17 helper T cells. N Engl J Med. 2009;361(9):888\u201398.","journal-title":"N Engl J Med"}],"container-title":["Pediatric Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-019-0359-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12969-019-0359-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-019-0359-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T23:09:21Z","timestamp":1598396961000},"score":1,"resource":{"primary":{"URL":"https:\/\/ped-rheum.biomedcentral.com\/articles\/10.1186\/s12969-019-0359-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,27]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["359"],"URL":"https:\/\/doi.org\/10.1186\/s12969-019-0359-9","relation":{},"ISSN":["1546-0096"],"issn-type":[{"value":"1546-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,27]]},"assertion":[{"value":"5 June 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 August 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 August 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Ethical Approval from IRB is obtained and patient\/parent consent to publish their photographs and clinical information is obtained.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent for publication is obtained from the patient\/parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"59"}}