{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T15:42:22Z","timestamp":1793288542444,"version":"4.5.0"},"reference-count":10,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"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":["Lupus"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:p>We report a female with infantile onset of systemic lupus erythematosus secondary to C1q deficiency, in whom we identified a novel homozygous mutation in C1qB. The patient developed a progressive encephalopathy associated with spasticity, and suffered several arterial ischaemic strokes. Cerebral imaging demonstrated acquired intracranial calcification and a cerebral vasculopathy reminiscent of moyamoya. This case demonstrates overlap with some features of Aicardi-Gouti\u00e8res syndrome which, like C1q deficiency, is a monogenic cause of inflammation involving dysregulation of the innate immune system and stimulation of a type I interferon response.<\/jats:p>","DOI":"10.1177\/0961203313486950","type":"journal-article","created":{"date-parts":[[2013,5,8]],"date-time":"2013-05-08T00:38:17Z","timestamp":1367973497000},"page":"639-643","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":40,"title":["Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy"],"prefix":"10.1177","volume":"22","author":[{"given":"C","family":"Troedson","sequence":"first","affiliation":[{"name":"T.Y. Nelson Department of Neurology and Neurosurgery, The Children\u2019s Hospital at Westmead, University of Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Immunology, The Children\u2019s Hospital at Westmead, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Dalby-Payne","sequence":"additional","affiliation":[{"name":"Department of General Medicine, The Children\u2019s Hospital at Westmead, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, The Children\u2019s Hospital at Westmead, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Dexter","sequence":"additional","affiliation":[{"name":"T.Y. Nelson Department of Neurology and Neurosurgery, The Children\u2019s Hospital at Westmead, University of Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GI","family":"Rice","sequence":"additional","affiliation":[{"name":"Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and St. Mary's Hospital, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YJ","family":"Crow","sequence":"additional","affiliation":[{"name":"Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and St. Mary's Hospital, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RC","family":"Dale","sequence":"additional","affiliation":[{"name":"T.Y. Nelson Department of Neurology and Neurosurgery, The Children\u2019s Hospital at Westmead, University of Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,5,7]]},"reference":[{"key":"bibr1-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1111\/j.1756-185X.2010.01574.x"},{"key":"bibr2-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2011.39"},{"key":"bibr3-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1789.2000.00300.x"},{"key":"bibr4-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.24.12.1960"},{"key":"bibr5-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33457"},{"key":"bibr6-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp293"},{"key":"bibr7-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03727.x"},{"key":"bibr8-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1104699108"},{"key":"bibr9-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1186\/ar301"},{"key":"bibr10-0961203313486950","doi-asserted-by":"publisher","DOI":"10.1002\/art.24852"}],"container-title":["Lupus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0961203313486950","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0961203313486950","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0961203313486950","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T23:13:11Z","timestamp":1777677191000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0961203313486950"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1177\/0961203313486950"],"URL":"https:\/\/doi.org\/10.1177\/0961203313486950","relation":{},"ISSN":["0961-2033","1477-0962"],"issn-type":[{"value":"0961-2033","type":"print"},{"value":"1477-0962","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5]]}}}