{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:05:49Z","timestamp":1772168749736,"version":"3.50.1"},"update-to":[{"DOI":"10.12688\/f1000research.11539.1","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2018,2,28]],"date-time":"2018-02-28T00:00:00Z","timestamp":1519776000000}}],"reference-count":22,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2018,2,28]],"date-time":"2018-02-28T00:00:00Z","timestamp":1519776000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18p- and distal 18q- syndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid arthritis (RA) in a 32 year old Dominican woman with hypothyroidism, vitiligo, IgA deficiency, interstitial lung disease (ILD), cystic bronchiectasis, and features consistent with ringed 18, 18p- and distal 18q syndrome.\u00a0 The multiple autoimmune findings in our patient lends further support to the idea of loci on chromosome 18 playing a role in autoimmune disease expression. Late onset RA and ILD in a patient with chromosome 18 abnormalities are novel findings and are additional conditions to be aware of in this population.<\/ns4:p>","DOI":"10.12688\/f1000research.11539.2","type":"journal-article","created":{"date-parts":[[2018,2,28]],"date-time":"2018-02-28T06:00:19Z","timestamp":1519797619000},"page":"1940","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18"],"prefix":"10.12688","volume":"6","author":[{"given":"Alanna","family":"Chau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"KH","family":"Ramesh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anand D","family":"Jagannath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shitij","family":"Arora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2018,2,28]]},"reference":[{"key":"ref-1","first-page":"895-906","article-title":"Molecular analysis of the 18q- syndrome--and correlation with phenotype.","volume":"52","author":"A Kline","year":"1993","journal-title":"Am J Hum Genet."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1186\/1471-2350-12-171","article-title":"Mechanisms of ring chromosome formation, ring instability and clinical consequences.","volume":"12","author":"R Guilherme","year":"2011","journal-title":"BMC Med Genet."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"174-179","DOI":"10.1007\/BF00591082","article-title":"Does \"ring syndrome\" exist? 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status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.15249.r31261, Gy\u00f6rgy Kosztol\u00e1nyi, Department of Medical Genetics, Clinical Center, University of P\u00e9cs, P\u00e9cs, Hungary, 06 Mar 2018, version 2, indexed","URL":"https:\/\/f1000research.com\/articles\/6-1940\/v2#referee-response-31261","order":0,"name":"referee-response-31261","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.15249.r31262, Jannine D. Cody, Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA, 14 Mar 2018, version 2, indexed","URL":"https:\/\/f1000research.com\/articles\/6-1940\/v2#referee-response-31262","order":1,"name":"referee-response-31262","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"The author(s) declared that no grants were involved in supporting this work","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Data associated with the article are available under the terms of the Creative Commons Zero \"No rights reserved\" data waiver (CC0 1.0 Public domain dedication).","order":0,"name":"copyright-info","label":"Copyright"}]}}