{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T13:19:46Z","timestamp":1765372786996,"version":"3.46.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,21]],"date-time":"2025-04-21T00:00:00Z","timestamp":1745193600000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100017950","name":"Shanghai Municipal Health Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017950","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>We report a case of Blau syndrome in a 22\u2010year\u2010old Chinese female. The patient initially presented with joint swelling and pain at the age of one, subsequently developing a generalized rash and uveitis. Initially diagnosed with juvenile idiopathic arthritis, she was treated based on this diagnosis. However, genetic testing conducted in 2020 revealed a heterozygous mutation, C. 1538(exon 4)T &gt;\u2009C, in the NOD2 gene (NM_022162), resulting in the substitution of methionine with threonine at position 513 of the encoded protein (p. M513T). This finding led to the re\u2010diagnosis of Blau syndrome. The patient exhibited intermittent hemorrhagic lesions on the skin of both lower extremities on three occasions\u2014in 2011, 2022, and 2024\u2014and was subsequently diagnosed with severe thrombocytopenia upon hospitalization. Analyzing and summarizing this case can provide valuable insights into the clinical characteristics of Blau syndrome, thereby contributing a deeper understanding of this rare condition.<\/jats:p>","DOI":"10.1111\/1756-185x.70230","type":"journal-article","created":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T03:34:27Z","timestamp":1745552067000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Blau Syndrome With Thrombocytopenia"],"prefix":"10.1111","volume":"28","author":[{"given":"Di","family":"Pan","sequence":"first","affiliation":[{"name":"Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoling","family":"Dai","sequence":"additional","affiliation":[{"name":"Shanghai Putuo Traditional Chinese Medicine Hospital  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pan","family":"Li","sequence":"additional","affiliation":[{"name":"Longhua Hospital Shanghai University of Traditional Chinese Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongwei","family":"Fu","sequence":"additional","affiliation":[{"name":"Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8746-7050","authenticated-orcid":false,"given":"Qianghua","family":"Wei","sequence":"additional","affiliation":[{"name":"Shanghai General Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,21]]},"reference":[{"key":"e_1_2_1_9_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2023.1211240"},{"key":"e_1_2_1_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(85)80394\u20102"},{"key":"e_1_2_1_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11427\u2010017\u20109090\u20106"},{"key":"e_1_2_1_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010019\u201000720\u20106"},{"key":"e_1_2_1_9_6_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2008.0510"},{"key":"e_1_2_1_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keu437"},{"key":"e_1_2_1_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12544"},{"key":"e_1_2_1_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng720"},{"key":"e_1_2_1_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102567.2007.02735.x"},{"key":"e_1_2_1_9_11_1","doi-asserted-by":"publisher","DOI":"10.19577\/j.1007\u20104406.2022.08.009"}],"container-title":["International Journal of Rheumatic Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1756-185X.70230","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T11:28:40Z","timestamp":1765366120000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1756-185X.70230"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1111\/1756-185X.70230"],"URL":"https:\/\/doi.org\/10.1111\/1756-185x.70230","archive":["Portico"],"relation":{},"ISSN":["1756-1841","1756-185X"],"issn-type":[{"type":"print","value":"1756-1841"},{"type":"electronic","value":"1756-185X"}],"subject":[],"published":{"date-parts":[[2025,4]]},"assertion":[{"value":"2024-10-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70230"}}