{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:18:13Z","timestamp":1787015893338,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,3,23]],"date-time":"2018-03-23T00:00:00Z","timestamp":1521763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The proband in this study was a 4\u2010year\u2010old Mexican girl with Blau syndrome. She and her affected family members had skin rash and arthritis but no uveitis. Exome sequencing and\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    direct sequencing from blood samples revealed a novel nucleotide\u2010binding oligomerization domain\u2010containing protein 2 gene mutation in the affected family members. This study is the first report of a Mexican family with Blau syndrome showing good infliximab treatment response. The novel mutation in the nucleotide\u2010binding oligomerization domain\u2010containing protein 2 gene (c.1808A&gt;G) enriches the mutation spectrum in Blau syndrome. This family represents one of the few cases of autosomal Blau syndrome with no uveitis; because of phenotype variability, it is important to recognize Blau syndrome's clinical spectrum and recommend genetic consultation.\n                  <\/jats:p>","DOI":"10.1111\/pde.13475","type":"journal-article","created":{"date-parts":[[2018,3,23]],"date-time":"2018-03-23T15:37:27Z","timestamp":1521819447000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide\u2010binding oligomerization domain\u2010containing protein 2 gene with good response to infliximab"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0324-7351","authenticated-orcid":false,"given":"Jaime","family":"Toral\u2010L\u00f3pez","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Centro M\u00e9dico Ecatepec Instituto de Seguridad Social del Estado de M\u00e9xico y Municipios M\u00e9xico City M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luz M.","family":"Gonz\u00e1lez\u2010Huerta","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hospital General de M\u00e9xico Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico M\u00e9xico City M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Mart\u00edn\u2010del Campo","sequence":"additional","affiliation":[{"name":"Dermatology Centro M\u00e9dico Ecatepec Instituto de Seguridad Social del Estado de M\u00e9xico y Municipios M\u00e9xico City M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Messina\u2010Baas","sequence":"additional","affiliation":[{"name":"Ophthalmology Hospital General de M\u00e9xico Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico M\u00e9xico City M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio A.","family":"Cuevas\u2010Covarrubias","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hospital General de M\u00e9xico Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico M\u00e9xico City M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,23]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng720"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24533"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24134"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-014-2493-6"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/03009740802464194"},{"key":"e_1_2_3_7_1","unstructured":"BIOBASE Biological Databases.Human Gene Mutation Database (HGMD Professional).Waltham MA:BIOBASE Biological Databases; c2016 [on\u2010line].http:\/\/www.biobase-international.com\/hgmd. Accessed September 25 2015."},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti770"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2014.07.029"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keu437"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24532"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0002119"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/1753425910394002"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13475","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13475","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T19:13:14Z","timestamp":1695496394000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,23]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1111\/pde.13475"],"URL":"https:\/\/doi.org\/10.1111\/pde.13475","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,23]]},"assertion":[{"value":"2018-03-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}