{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:47:49Z","timestamp":1791830869346,"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":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100010256","name":"Guangzhou Municipal Science and Technology Project","doi-asserted-by":"publisher","award":["2025A03J3200"],"award-info":[{"award-number":["2025A03J3200"]}],"id":[{"id":"10.13039\/501100010256","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014857","name":"national natural science foundation of china-guangdong joint fund","doi-asserted-by":"publisher","award":["U24A20691"],"award-info":[{"award-number":["U24A20691"]}],"id":[{"id":"10.13039\/501100014857","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Mult Scler"],"abstract":"<jats:p>Myelin oligodendrocyte glycoprotein antibody\u2013associated disease is a demyelinating disorder affecting the central nervous system. Autoimmune regulator mutations disrupt central tolerance and cause immunodeficiency and autoimmune manifestations. We report the case of a 49-year-old Asian male with relapsing myelin oligodendrocyte glycoprotein antibody\u2013associated disease and a heterozygous dominant-negative autoimmune regulator mutation (c.901G\u2009&gt;\u2009A, p.Val301Met), alongside vitiligo, cryptococcal disease and nasopharyngeal carcinoma. This case raises a potential link between negative selection failure and myelin oligodendrocyte glycoprotein antibody\u2013associated disease and suggests that autoreactive T cells may be primary pathogenetic drivers, implying that restoring immune tolerance could inform future therapeutic approaches.<\/jats:p>","DOI":"10.1177\/13524585261490277","type":"journal-article","created":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T11:38:34Z","timestamp":1791459514000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Myelin oligodendrocyte glycoprotein antibody-associated disease in a patient with AIRE gene dominant-negative mutation"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-9300-6672","authenticated-orcid":false,"given":"Linling","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruiwen","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurovascular Center, Changhai Hospital, Naval Medical University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingqi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqiang","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaonan","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"},{"name":"Perron Institute for Neurological and Translational Science, University of Western Australia, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China"}],"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":"crossref","unstructured":"Uzawa A Oertel FC Mori M et al. NMOSD and MOGAD: an evolving disease spectrum. Nat Rev Neurol 2024; 20(10): 602\u2013619. https:\/\/doi.org\/10.1038\/s41582-024-01014-1","DOI":"10.1038\/s41582-024-01014-1"},{"key":"e_1_3_3_3_2","doi-asserted-by":"crossref","unstructured":"Bj\u00f8rklund G Pivin M Hangan T et al. Autoimmune polyendocrine syndrome type 1: clinical manifestations pathogenetic features and management approach. Autoimmun Rev 2022; 21(8): 103135. https:\/\/doi.org\/10.1016\/j.autrev.2022.103135","DOI":"10.1016\/j.autrev.2022.103135"},{"key":"e_1_3_3_4_2","doi-asserted-by":"crossref","unstructured":"Oftedal BE Assing K Baris S et al. Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes. Iscience 2023; 26: 106818. https:\/\/doi.org\/10.1016\/j.isci.2023.106818","DOI":"10.1016\/j.isci.2023.106818"},{"key":"e_1_3_3_5_2","doi-asserted-by":"crossref","unstructured":"Moseley CE Virupakshaiah A Forsthuber TG et al. MOG CNS autoimmunity and MOGAD. Neurol Neuroimmunol Neuroinflamm 2024; 11(5): e200275. https:\/\/doi.org\/10.1212\/nxi.0000000000200275","DOI":"10.1212\/NXI.0000000000200275"},{"key":"e_1_3_3_6_2","doi-asserted-by":"crossref","unstructured":"Weber MS Prod'homme T Patarroyo JC et al. B-cell activation influences T-cell polarization and outcome of anti-CD20 B-cell depletion in central nervous system autoimmunity. Ann Neurol 2010; 68(3): 369\u2013383. https:\/\/doi.org\/10.1002\/ana.22081","DOI":"10.1002\/ana.22081"},{"key":"e_1_3_3_7_2","doi-asserted-by":"crossref","unstructured":"Uhl\u00e9n M Fagerberg L Hallstr\u00f6m BM et al. Proteomics. Tissue-based map of the human proteome. Science 2015; 347: 1260419. https:\/\/doi.org\/10.1126\/science.1260419","DOI":"10.1126\/science.347.6227.1274-c"},{"key":"e_1_3_3_8_2","doi-asserted-by":"crossref","unstructured":"Corbali O Parent AV Chitnis T. Low MOG expression in human thymus implications for central tolerance mechanisms in autoimmunity against MOG. Neurology 2024; 102: 5539. https:\/\/doi.org\/10.1212\/WNL.0000000000205887","DOI":"10.1212\/WNL.0000000000205887"},{"key":"e_1_3_3_9_2","doi-asserted-by":"crossref","unstructured":"Peschl P Bradl M H\u00f6ftberger R et al. Myelin oligodendrocyte glycoprotein: deciphering a target in inflammatory demyelinating diseases. Front Immunol 2017; 8: 529. https:\/\/doi.org\/10.3389\/fimmu.2017.00529","DOI":"10.3389\/fimmu.2017.00529"},{"key":"e_1_3_3_10_2","doi-asserted-by":"crossref","unstructured":"Miller CN Waterfield MR Gardner JM et al. Aire in autoimmunity. Annu Rev Immunol 2024; 42: 427\u2013453. https:\/\/doi.org\/10.1146\/annurev-immunol-090222-101050","DOI":"10.1146\/annurev-immunol-090222-101050"},{"key":"e_1_3_3_11_2","doi-asserted-by":"crossref","unstructured":"Traka M Podojil JR McCarthy DP et al. Oligodendrocyte death results in immune-mediated CNS demyelination. Nat Neurosci 2016; 19(1): 65\u201374. https:\/\/doi.org\/10.1038\/nn.4193","DOI":"10.1038\/nn.4193"}],"container-title":["Multiple Sclerosis Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585261490277","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/13524585261490277","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585261490277","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:23:37Z","timestamp":1791829417000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/13524585261490277"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,8]]},"references-count":10,"alternative-id":["10.1177\/13524585261490277"],"URL":"https:\/\/doi.org\/10.1177\/13524585261490277","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":"13524585261490277"}}