id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-323713-bc00vths	Volpi, Stefano	Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome	2019-05-29		.txt	text/plain	3225	192	46	RESULTS: We identified three patients with SAVI presenting with skin involvement and progressive severe interstitial lung disease. Following treatment with ruxolitinib, we observed improvements of respiratory function including increased forced vital capacity in two patients, with discontinuation of oxygen therapy and resolution of echocardiographic abnormalities in one case. Stimulator of IFN genes (STING)-associated vasculopathy with onset in infancy (SAVI) is caused by gain of function mutations in TMEM173 [3] , which lead to a constitutive production of high levels of type I IFNs without infectious triggers [3] [4] [5] . Notably, the clinical responses did not correlate with decreased type I IFN signatures, which improved only transiently in P1 during concomitant treatment with high dose steroids and ruxolitinib (Fig. 2b) . P3 (follow-up of 12 months) after ten months on treatment on ruxolitinib presented clinical and radiological relapse of lung disease requiring glucocorticoid therapy (2 mg/kg/day of prednisone) with a prompt response (Fig. 2a) .	./cache/cord-323713-bc00vths.txt	./txt/cord-323713-bc00vths.txt