{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:55:54Z","timestamp":1790744154371,"version":"4.1.0"},"reference-count":5,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,9,24]]},"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:p>A 25-year-old woman with a history of juvenile idiopathic arthritis and rheumatoid factor-positive polyarthritis developed dyspnoea. Progressive cystic lung disease was diagnosed. Biomarkers of autoimmunity, such as antinuclear antibodies, antiextractable nuclear antigen antibodies, anti-SCL-70, rheumatoid factor, cyclic citrullinated peptide antibodies, c-antineutrophil cytoplasmic antibody and MPO, were found. No familial disease was reported. Despite lack of kidney manifestations, coatomer-associated protein subunit alpha syndrome was suggested. Type 1 interferon signature score was 40.8 (range, &lt;2.3). A class 4 heterozygous mutation (c.725T&gt;G, p.Val242Gly) was confirmed. Due to abnormal trafficking between the Golgi complex and the endoplasmic reticulum, a Mendelian monogenic autosomal dominant syndrome associating inflammatory arthritis with interstitial lung disease, with several high-titre autoantibodies, was identified. Treatment with tyrosine kinase inhibitors, Janus kinases-signal transducers and activators of transduction, may be beneficial.<\/jats:p>","DOI":"10.1136\/bcr-2019-231553","type":"journal-article","created":{"date-parts":[[2020,11,2]],"date-time":"2020-11-02T16:05:11Z","timestamp":1604333111000},"page":"e231553","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Coatomer-associated protein subunit alpha syndrome: abnormal trafficking between the Golgi complex and the endoplasmic reticulum"],"prefix":"10.1136","volume":"13","author":[{"given":"Julie","family":"Perrin","sequence":"first","affiliation":[{"name":"Pneumology, Groupe Hospitalier UNEOS, Metz, Grand Est, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Roux","sequence":"additional","affiliation":[{"name":"Rheumatology, Groupe Hospitalier UNEOS, Metz, Grand Est, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3222-8566","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Maurier","sequence":"additional","affiliation":[{"name":"M\u00e9decine Interne, Groupe Hospitalier UNEOS, Metz, Grand Est, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,11,2]]},"reference":[{"key":"2025082707241606000_13.11.e231553.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3279"},{"key":"2025082707241606000_13.11.e231553.2","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/s10875-016-0271-8","article-title":"Copa syndrome: a novel autosomal dominant immune dysregulatory disease","volume":"36","author":"Vece","year":"2016","journal-title":"J Clin Immunol"},{"key":"2025082707241606000_13.11.e231553.3","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1164\/rccm.201611-2209LE","article-title":"The genetic diagnosis of interstitial lung disease: a need for an international consensus","volume":"195","author":"Borie","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"key":"2025082707241606000_13.11.e231553.4","doi-asserted-by":"crossref","first-page":"S78","DOI":"10.5152\/eurjrheum.2019.18177","article-title":"Baricitinib in therapy of COPA syndrome in a 15-year-old girl","volume":"7(Suppl 1)","author":"Krutzke","year":"2020","journal-title":"Eur J Rheumatol"},{"key":"2025082707241606000_13.11.e231553.5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/s12969-019-0359-9","article-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","volume":"17","author":"Patwardhan","year":"2019","journal-title":"Pediatr Rheumatol Online J"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-231553","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:24:25Z","timestamp":1756304665000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-231553"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":5,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2020,11,2]]},"published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1136\/bcr-2019-231553"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-231553","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11]]}}}