{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T23:27:15Z","timestamp":1785540435669,"version":"3.56.0"},"reference-count":17,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1016\/j.ejmg.2021.104286","type":"journal-article","created":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T14:43:33Z","timestamp":1625669013000},"page":"104286","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Spondylenchondrodysplasia mimicking a systemic lupus erythematosus: A diagnostic challenge in a pediatric patient"],"prefix":"10.1016","volume":"64","author":[{"given":"Esra","family":"Ba\u011flan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5602-4595","authenticated-orcid":false,"given":"Semanur","family":"\u00d6zdel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00fclin","family":"G\u00fcng\u00f6r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Resul","family":"Karaku\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emin \u00dcmit","family":"Ba\u011fr\u0131a\u00e7\u0131k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015feg\u00fcl Atak","family":"Y\u00fccel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"B\u00fclb\u00fcl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2021.104286_bib1","author":"Alfakeeh"},{"key":"10.1016\/j.ejmg.2021.104286_bib2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/art.39810","article-title":"Tartrate-resistant acid phosphatase deficiency in the predisposition to systemic lupus erythematosus","volume":"69","author":"An","year":"2017","journal-title":"Arthritis and Rheumatology"},{"issue":"31","key":"10.1016\/j.ejmg.2021.104286_bib20","doi-asserted-by":"crossref","first-page":"8342","DOI":"10.1073\/pnas.1704259114","article-title":"Severe viral respiratory infections in children with IFIH1 loss-of-function mutations","volume":"114","author":"Asgari","year":"2017","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ejmg.2021.104286_bib3","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1177\/0961203316629000","article-title":"Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature","volume":"25","author":"Bilginer","year":"2015","journal-title":"Lupus"},{"key":"10.1016\/j.ejmg.2021.104286_bib4","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/s10875-016-0252-y","article-title":"Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey","volume":"36","author":"Briggs","year":"2016","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.ejmg.2021.104286_bib5","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/ng.748","article-title":"Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type i interferon expression signature","volume":"43","author":"Briggs","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2021.104286_bib6","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.jbspin.2018.10.007","article-title":"Rare diseases that mimic systemic lupus erythematosus (lupus mimickers)","volume":"86","author":"Chasset","year":"2019","journal-title":"Joint Bone Spine"},{"key":"10.1016\/j.ejmg.2021.104286_bib7","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1159\/000443684","article-title":"Severe short stature in two siblings as the presenting sign of ACP5 deficiency","volume":"85","author":"De Bruin","year":"2016","journal-title":"Hormone Research in Paediatrics"},{"key":"10.1016\/j.ejmg.2021.104286_bib8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12969-015-0035-7","article-title":"Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene","volume":"13","author":"Girschick","year":"2015","journal-title":"Pediatr. Rheumatol."},{"key":"10.1016\/j.ejmg.2021.104286_bib9","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1177\/002215540104900601","article-title":"Tartrate-resistant acid phosphatase (Acp 5): identification in diverse human tissues and dendritic cells","volume":"49","author":"Hayman","year":"2001","journal-title":"J. Histochem. Cytochem."},{"issue":"9","key":"10.1016\/j.ejmg.2021.104286_bib18","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1002\/art.1780400928","article-title":"Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus","volume":"40","author":"Hochberg","year":"1997","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.ejmg.2021.104286_bib11","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/ng.749","article-title":"Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity","volume":"43","author":"Lausch","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2021.104286_bib12","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/BF02411252","article-title":"Bone acid phosphatase: tartrate-resistant acid phosphatase as a marker of osteoclast function","volume":"34","author":"Minkin","year":"1982","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.ejmg.2021.104286_bib13","doi-asserted-by":"crossref","first-page":"2810","DOI":"10.1002\/ajmg.a.32518","article-title":"Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation","volume":"146","author":"Navarro","year":"2008","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104286_bib14","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.autrev.2017.07.001","article-title":"Does type-I interferon drive systemic autoimmunity?","volume":"16","author":"Picard","year":"2017","journal-title":"Autoimmun. Rev."},{"key":"10.1016\/j.ejmg.2021.104286_bib15","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/pbc.26195","article-title":"Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations","volume":"64","author":"Sacri","year":"2017","journal-title":"Pediatr. Blood Canc."},{"key":"10.1016\/j.ejmg.2021.104286_bib16","series-title":"Spondyloenchondrodysplasia 133\u2013139","author":"Schorr","year":"1976"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122100152X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972122100152X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:52:08Z","timestamp":1761709928000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972122100152X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":17,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["S176972122100152X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104286","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Spondylenchondrodysplasia mimicking a systemic lupus erythematosus: A diagnostic challenge in a pediatric patient","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104286","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104286"}}