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- PMID: 23651859
- UKPMCID: 23651859
- DOI: 10.1177/0961203313486950
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Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.
Troedson, C; Wong, M; Dalby-Payne, J; Wilson, M; Dexter, M; Rice, G I; Crow, Y J; Dale, R C
Lupus. 2013;22(6):639-43.
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Full-text held externally
- PMID: 23651859
- UKPMCID: 23651859
- DOI: 10.1177/0961203313486950
Abstract
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-Goutières 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.