{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T11:49:58Z","timestamp":1769168998139,"version":"3.49.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The cause of systemic lupus erythematosus is not completely clear so far, but the prevalence of systemic lupus erythematosus is significantly increased in people with additional X chromosomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>We report a 17-year-old Chinese female patient with systemic lupus erythematosus complicated with trisomy X, accompanied by lupus nephritis, pancytopenia, hemolytic anemia, and multiserous effusion. The patient recovered well after treatment and returned regularly. We review the previously reported cases to summarize the clinical characteristics of these patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The additional X chromosome is related to the development of systemic lupus erythematosus. Whether it is a subtype of systemic lupus erythematosus remains to be further confirmed.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13256-022-03478-5","type":"journal-article","created":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T23:02:58Z","timestamp":1658185378000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Systemic lupus erythematosus with trisomy X: a case report and review\u00a0of the literature"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4694-124X","authenticated-orcid":false,"given":"Fang","family":"Luo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiao","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"issue":"9","key":"3478_CR1","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1056\/NEJMra071297","volume":"358","author":"A Rahman","year":"2008","unstructured":"Rahman A, Isenberg DA. Systemic lupus erythematosus. N Engl J Med. 2008;358(9):929\u201339.","journal-title":"N Engl J Med"},{"issue":"8","key":"3478_CR2","doi-asserted-by":"publisher","first-page":"2511","DOI":"10.1002\/art.23701","volume":"58","author":"RH Scofield","year":"2008","unstructured":"Scofield RH, Bruner GR, Namjou B, et\u00a0al. Klinefelter\u2019s syndrome (47, XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum. 2008;58(8):2511\u20137.","journal-title":"Arthritis Rheum"},{"issue":"1","key":"3478_CR3","first-page":"61","volume":"4","author":"P Balestrazzi","year":"1986","unstructured":"Balestrazzi P, Ferraccioli GF, Ambanelli U, Giovannelli G. Juvenile rheumatoid arthritis in Turner\u2019s syndrome. Clin Exp Rheumatol. 1986;4(1):61\u20132.","journal-title":"Clin Exp Rheumatol"},{"issue":"5","key":"3478_CR4","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1002\/art.39560","volume":"68","author":"K Liu","year":"2016","unstructured":"Liu K, Kurien BT, Zimmerman SL, et\u00a0al. X chromosome dose and sex bias in autoimmune diseases: increased prevalence of 47,XXX in systemic lupus erythematosus and Sj\u00f6gren\u2019s syndrome. Arthritis Rheumatol. 2016;68(5):1290\u2013300.","journal-title":"Arthritis Rheumatol"},{"issue":"9","key":"3478_CR5","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1136\/annrheumdis-2018-214819","volume":"78","author":"M Aringer","year":"2019","unstructured":"Aringer M, Costenbader K, Daikh D, et\u00a0al. 2019 European League Against Rheumatism\/American College of Rheumatology classification criteria for systemic lupus erythematosus. Ann Rheum Dis. 2019;78(9):1151\u20139.","journal-title":"Ann Rheum Dis"},{"issue":"1","key":"3478_CR6","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/BF01213097","volume":"87","author":"J Nielsen","year":"1991","unstructured":"Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus. Denmark Hum Genet. 1991;87(1):81\u20133.","journal-title":"Denmark. Hum Genet."},{"issue":"7","key":"3478_CR7","doi-asserted-by":"publisher","first-page":"2201","DOI":"10.1093\/humrep\/des104","volume":"27","author":"X Jiao","year":"2012","unstructured":"Jiao X, Qin C, Li J, et\u00a0al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod. 2012;27(7):2201\u20137.","journal-title":"Hum Reprod"},{"issue":"1","key":"3478_CR8","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1080\/14397595.2016.1205800","volume":"29","author":"T Iwamoto","year":"2019","unstructured":"Iwamoto T, Fujimoto M, Ikeda K, et\u00a0al. Manifestations of systemic lupus erythematosus in female patients with polysomy X: possible roles of chromosome X. Mod Rheumatol. 2019;29(1):192\u20134.","journal-title":"Mod Rheumatol"},{"key":"3478_CR9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtauto.2020.100043","volume":"3","author":"FB Barbosa","year":"2020","unstructured":"Barbosa FB, Sinicato NA, Julio PR, et\u00a0al. Trisomy X in a patient with childhood-onset systemic lupus erythematosus. J Transl Autoimmun. 2020;3: 100043.","journal-title":"J Transl Autoimmun."},{"issue":"1","key":"3478_CR10","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/s12969-021-00507-3","volume":"19","author":"S Yamazaki","year":"2021","unstructured":"Yamazaki S, Akutsu Y, Shimbo A, Shimizu M, Segawa Y, Mori M. Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report. Pediatr Rheumatol Online J. 2021;19(1):20.","journal-title":"Pediatr Rheumatol Online J"},{"key":"3478_CR11","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/1750-1172-5-8","volume":"5","author":"NR Tartaglia","year":"2010","unstructured":"Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010;5:8.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"3478_CR12","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1016\/j.semarthrit.2013.07.014","volume":"43","author":"M Slae","year":"2014","unstructured":"Slae M, Heshin-Bekenstein M, Simckes A, Heimer G, Engelhard D, Eisenstein EM. Female polysomy-X and systemic lupus erythematosus. Semin Arthritis Rheum. 2014;43(4):508\u201312.","journal-title":"Semin Arthritis Rheum"},{"issue":"11","key":"3478_CR13","doi-asserted-by":"publisher","first-page":"2187","DOI":"10.1002\/art.40207","volume":"69","author":"R Sharma","year":"2017","unstructured":"Sharma R, Harris VM, Cavett J, et\u00a0al. Rare X chromosome abnormalities in systemic lupus erythematosus and Sj\u00f6gren\u2019s Syndrome. Arthritis Rheumatol. 2017;69(11):2187\u201392.","journal-title":"Arthritis Rheumatol"},{"issue":"2\u20133","key":"3478_CR14","doi-asserted-by":"publisher","first-page":"J129","DOI":"10.1016\/j.jaut.2011.10.004","volume":"38","author":"SP Dillon","year":"2012","unstructured":"Dillon SP, Kurien BT, Li S, et\u00a0al. Sex chromosome aneuploidies among men with systemic lupus erythematosus. J Autoimmun. 2012;38(2\u20133):J129\u201334.","journal-title":"J Autoimmun"},{"issue":"6","key":"3478_CR15","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1097\/SHK.0b013e31802e40bd","volume":"27","author":"Z Spolarics","year":"2007","unstructured":"Spolarics Z. The X-files of inflammation: cellular mosaicism of X-linked polymorphic genes and the female advantage in the host response to injury and infection. Shock. 2007;27(6):597\u2013604.","journal-title":"Shock"},{"issue":"14","key":"3478_CR16","doi-asserted-by":"publisher","first-page":"5761","DOI":"10.1073\/pnas.0808743106","volume":"106","author":"A Sharma","year":"2009","unstructured":"Sharma A, Kumar M, Aich J, et\u00a0al. Posttranscriptional regulation of interleukin-10 expression by hsa-miR-106a. Proc Natl Acad Sci U S A. 2009;106(14):5761\u20136.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"3478_CR17","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/j.1365-2249.2012.04676.x","volume":"171","author":"MC Lu","year":"2013","unstructured":"Lu MC, Lai NS, Chen HC, et\u00a0al. Decreased microRNA(miR)-145 and increased miR-224 expression in T cells from patients with systemic lupus erythematosus involved in lupus immunopathogenesis. Clin Exp Immunol. 2013;171(1):91\u20139.","journal-title":"Clin Exp Immunol"},{"issue":"10","key":"3478_CR18","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.3899\/jrheum.171290","volume":"45","author":"L Xie","year":"2018","unstructured":"Xie L, Xu J. Role of miR-98 and its underlying mechanisms in systemic lupus erythematosus. J Rheumatol. 2018;45(10):1397\u2013405.","journal-title":"J Rheumatol"},{"issue":"9","key":"3478_CR19","doi-asserted-by":"publisher","first-page":"6352","DOI":"10.4049\/jimmunol.179.9.6352","volume":"179","author":"Q Lu","year":"2007","unstructured":"Lu Q, Wu A, Tesmer L, Ray D, Yousif N, Richardson B. Demethylation of CD40LG on the inactive X in T cells from women with lupus. J Immunol. 2007;179(9):6352\u20138.","journal-title":"J Immunol"},{"issue":"3","key":"3478_CR20","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1136\/annrheumdis-2012-201851","volume":"72","author":"KM Kaufman","year":"2013","unstructured":"Kaufman KM, Zhao J, Kelly JA, et\u00a0al. Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Ann Rheum Dis. 2013;72(3):437\u201344.","journal-title":"Ann Rheum Dis"},{"key":"3478_CR21","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1172\/jci.insight.126751","volume":"4","author":"CM Syrett","year":"2019","unstructured":"Syrett CM, Paneru B, Sandoval-Heglund D, et\u00a0al. Altered X-chromosome inactivation in T cells may promote sex-biased autoimmune diseases. JCI Insight. 2019;4:7.","journal-title":"JCI Insight."},{"issue":"1","key":"3478_CR22","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1093\/hmg\/ddu429","volume":"24","author":"Y Zhang","year":"2015","unstructured":"Zhang Y, Zhang J, Yang J, et\u00a0al. Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus. Hum Mol Genet. 2015;24(1):274\u201384.","journal-title":"Hum Mol Genet"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-022-03478-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-022-03478-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-022-03478-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,24]],"date-time":"2023-11-24T18:35:06Z","timestamp":1700850906000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-022-03478-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,19]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["3478"],"URL":"https:\/\/doi.org\/10.1186\/s13256-022-03478-5","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,19]]},"assertion":[{"value":"28 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 July 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study has been performed according to the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"281"}}