{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T23:27:31Z","timestamp":1785540451464,"version":"3.56.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,14]]},"DOI":"10.7759\/cureus.60314","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T06:16:00Z","timestamp":1715753760000},"source":"Crossref","is-referenced-by-count":5,"title":["Spondyloenchondrodysplasia With Immune Dysregulation, but Without Skeletal Dysplasia, in a Six-Year-Old Boy: A Case Report"],"prefix":"10.7759","author":[{"given":"Faten","family":"Al-Kateb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duaa","family":"Dyab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basher","family":"Almadani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora","family":"Al-Enezi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.93","article-title":"Spondyloenchondrodysplasia","volume":"26","author":"Menger H","year":"1989","unstructured":"Menger H, Kruse K, Spranger J. Spondyloenchondrodysplasia. J Med Genet. 1989, 26:93-9. 10.1136\/jmg.26.2.93","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0578-1310.2018.08.011","article-title":"Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review [Article in Chinese]","volume":"56","author":"Zhong LQ","year":"2018","unstructured":"Zhong LQ, Wang L, Song HM, Wang W, Wei M, He YY. Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review [Article in Chinese]. Zhonghua Er Ke Za Zhi. 2018, 56:611-6. 10.3760\/cma.j.issn.0578-1310.2018.08.011","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.12659\/AJCR.920760","article-title":"A case of Evans syndrome with acute hemolysis and hemoglobin cast nephropathy","volume":"21","author":"Couri FS","year":"2020","unstructured":"Couri FS, Kandula M. A case of Evans syndrome with acute hemolysis and hemoglobin cast nephropathy. Am J Case Rep. 2020, 21:e920760. 10.12659\/AJCR.920760","journal-title":"Am J Case Rep"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31081","article-title":"Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder","volume":"140","author":"Renella R","year":"2006","unstructured":"Renella R, Schaefer E, LeMerrer M, et al.. Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A. 2006, 140:541-50. 10.1002\/ajmg.a.31081","journal-title":"Am J Med Genet A"},{"key":"ref5","unstructured":"Evan syndrome. (2020). Accessed. 2024: https:\/\/emedicine.medscape.com\/article\/955266-overview."},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-016-0252-y","article-title":"Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey","volume":"36","author":"Briggs TA","year":"2016","unstructured":"Briggs TA, Rice GI, Adib N, et al.. Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey. J Clin Immunol. 2016, 36:220-34. 10.1007\/s10875-016-0252-y","journal-title":"J Clin Immunol"},{"key":"ref7","article-title":"Evans syndrome","author":"Shaikh H","year":"2023","unstructured":"Shaikh H, Mewawalla P. Evans syndrome. StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL); 2023."},{"key":"ref8","doi-asserted-by":"publisher","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 E","year":"2011","unstructured":"Lausch E, Janecke A, Bros M, et al.. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011, 43:132-7. 10.1038\/ng.749","journal-title":"Nat Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.31729\/jnma.7421","article-title":"Evans syndrome: a case report","volume":"60","author":"Dhakal S","year":"2022","unstructured":"Dhakal S, Neupane S, Mandal A, Parajuli SB, Sapkota S. Evans syndrome: a case report. JNMA J Nepal Med Assoc. 2022, 60:482-4. 10.31729\/jnma.7421","journal-title":"JNMA J Nepal Med Assoc"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.5546\/aap.2023-03031.eng","article-title":"Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases","volume":"122","author":"Dri J","year":"2024","unstructured":"Dri J, Dos Santos E, Pereyra M, Guillamondegui MJ, Ballester C, Tolin A, Gatica C. Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases. Arch Argent Pediatr. 2024, 122:e202303031. 10.5546\/aap.2023-03031.eng","journal-title":"Arch Argent Pediatr"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30078","article-title":"Spondyloenchondrodysplasia: clinical variability in three cases","volume":"128A","author":"T\u00fcys\u00fcz B","year":"2004","unstructured":"T\u00fcys\u00fcz B, Arapoglu M, Ung\u00fcr S. Spondyloenchondrodysplasia: clinical variability in three cases. Am J Med Genet A. 2004, 128A:185-9. 10.1002\/ajmg.a.30078","journal-title":"Am J Med Genet A"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2017.00157","article-title":"A case with spondyloenchondrodysplasia treated with growth hormone","volume":"8","author":"Utsumi T","year":"2017","unstructured":"Utsumi T, Okada S, Izawa K, et al.. A case with spondyloenchondrodysplasia treated with growth hormone. Front Endocrinol (Lausanne). 2017, 8:157. 10.3389\/fendo.2017.00157","journal-title":"Front Endocrinol (Lausanne)"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/208568-spondyloenchondrodysplasia-with-immune-dysregulation-but-without-skeletal-dysplasia-in-a-six-year-old-boy-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T06:16:05Z","timestamp":1715753765000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/208568-spondyloenchondrodysplasia-with-immune-dysregulation-but-without-skeletal-dysplasia-in-a-six-year-old-boy-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,14]]},"references-count":12,"URL":"https:\/\/doi.org\/10.7759\/cureus.60314","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5,14]]}}}