期刊
LUPUS
卷 22, 期 6, 页码 639-643出版社
SAGE PUBLICATIONS LTD
DOI: 10.1177/0961203313486950
关键词
C1q; moyamoya; lupus; Aicardi-GoutiSres syndrome; stroke
类别
资金
- European Union [241779]
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-GoutiSres 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.
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