id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_ynlihd3vdrex3bqmcr6prrpmou	Michael Henrickson	Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation	2017.0	7	.pdf	application/pdf	4943	579	52	SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within vasculopathy of the homozygous SAMHD1 mutationmediated auto-inflammatory disease SAMS responded favorably to tocilizumab infusion therapy. in this gene can also cause the rare genetic condition, AicardiGoutières syndrome (AGS, MIM225750), which bears a phenotypic resemblance to this cerebral vasculopathy occurring of self-activated innate immunity, including negative regulation of the IFN-stimulatory DNA (ISD) response. purpura [23], giant cell arteritis [24, 25], acute Kawasaki disease [26–28], and various large vessel vasculitides [29–33]. disease remission for refractory neuro-Behçet's disease, relapsing or refractory giant cell arteritis, and large vessel vasculitis secondary to Takayasu's arteritis, Cogan syndrome, and Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation	./cache/work_ynlihd3vdrex3bqmcr6prrpmou.pdf	./txt/work_ynlihd3vdrex3bqmcr6prrpmou.txt