title: Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.
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.
authors: T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, University of Sydney, Australia.
authors: C
authors: C
authors: Troedson
authors: M
authors: M
authors: Wong
authors: J
authors: J
authors: Dalby-Payne
authors: M
authors: M
authors: Wilson
authors: M
authors: M
authors: Dexter
authors: G I
authors: GI
authors: Rice
authors: Y J
authors: YJ
authors: Crow
authors: R C
authors: RC
authors: Dale
mesh_terms: D000293:Adolescent; D020274:Autoimmune Diseases of the Nervous System / Q000175:diagnosis / Q000503:physiopathology; D002545:Brain Ischemia / Q000209:etiology / Q000473:pathology; D002114:Calcinosis / Q000209:etiology / Q000473:pathology; D015922:Complement C1q / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000209:etiology* / Q000503:physiopathology; D009072:Moyamoya Disease / Q000209:etiology / Q000503:physiopathology*; D009154:Mutation; D009421:Nervous System Malformations / Q000175:diagnosis / Q000503:physiopathology
chemical_list: D015922:Complement C1q
keywords: Aicardi-Goutières syndrome; C1q; lupus; moyamoya; stroke