{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T17:46:34Z","timestamp":1791740794885,"version":"4.3.4"},"reference-count":10,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:00Z","timestamp":1791417600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:00Z","timestamp":1791417600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Mult Scler"],"abstract":"<jats:p>\n                    Kabuki syndrome, caused by\n                    <jats:italic toggle=\"yes\">KMT2D<\/jats:italic>\n                    or\n                    <jats:italic toggle=\"yes\">KDM6A<\/jats:italic>\n                    mutations, is a multisystem disorder with immune dysregulation. Its association with aquaporin-4 (AQP4) antibody\u2013positive neuromyelitis optica spectrum disorder has not been reported. A 17-year-old male with autoimmune hypothyroidism presented with acute visual loss and was diagnosed with AQP4-IgG\u2013positive optic neuritis. He received corticosteroids, plasma exchange, and rituximab, achieving full recovery and remaining relapse-free during follow-up. Genetic testing showed a likely pathogenic\n                    <jats:italic toggle=\"yes\">KMT2D<\/jats:italic>\n                    variant. This case documents the first association between these conditions, where immune dysregulation, including\n                    <jats:italic toggle=\"yes\">FOXP3<\/jats:italic>\n                    -dependent regulatory T-cell dysfunction and Th17-skewed inflammation, suggests a mechanistic link with implications for diagnosis and management.\n                  <\/jats:p>","DOI":"10.1177\/13524585261490261","type":"journal-article","created":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T11:39:08Z","timestamp":1791459548000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Neuromyelitis optica spectrum disorder associated with Kabuki syndrome: First reported case and immunopathogenic considerations"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-9756-4077","authenticated-orcid":false,"given":"Marta","family":"Molina-Haro","sequence":"first","affiliation":[{"name":"Servicio de Neurolog\u00eda, Hospital Universitario Virgen de las Nieves, Granada, Espa\u00f1a"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7277-7607","authenticated-orcid":false,"given":"Jos\u00e9 Mar\u00eda","family":"Barrios-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Servicio de Neurolog\u00eda, Hospital Universitario Virgen de las Nieves, Granada, Espa\u00f1a"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria, ibs.GRANADA, Espa\u00f1a"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda del Carmen","family":"Barrera-Aguilera","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, Hospital Universitario Virgen de las Nieves, Granada, Espa\u00f1a"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,10,8]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040468"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738241291622"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.021908.132710"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12099"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000001168"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.09.005"},{"issue":"2","key":"e_1_3_3_8_2","first-page":"45","article-title":"Kabuki syndrome with rheumatoid arthritis: first reported case","volume":"35","author":"Roca M","year":"2024","unstructured":"Roca M, et al. Kabuki syndrome with rheumatoid arthritis: first reported case. Rev Arg Reumatol 2024; 35(2): 45\u201348.","journal-title":"Rev Arg Reumatol"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.reuma.2021.03.001"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2006.04.178"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXI.000000000020053"}],"container-title":["Multiple Sclerosis Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585261490261","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/13524585261490261","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585261490261","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T17:11:36Z","timestamp":1791738696000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/13524585261490261"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,8]]},"references-count":10,"alternative-id":["10.1177\/13524585261490261"],"URL":"https:\/\/doi.org\/10.1177\/13524585261490261","relation":{},"ISSN":["1352-4585","1477-0970"],"issn-type":[{"value":"1352-4585","type":"print"},{"value":"1477-0970","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,8]]},"article-number":"13524585261490261"}}