Article
Early-onset stroke and vasculopathy associated with mutations in ADA2.
The New England journal of medicine - 6 Mar 2014
Zhou Qing, Yang Dan, Ombrello Amanda K, Zavialov Andrey V, Toro Camilo, Zavialov Anton V, Stone Deborah L, Chae Jae Jin, Rosenzweig Sergio D, Bishop Kevin, Barron Karyl S, Kuehn Hye Sun, Hoffmann Patrycja, Negro Alejandra, Tsai Wanxia L, Cowen Edward W, Pei Wuhong, Milner Joshua D, Silvin Christopher, Heller Theo, Chin David T, Patronas Nicholas J, Barber John S, Lee Chyi-Chia R, Wood Geryl M, Ling Alexander, Kelly Susan J, Kleiner David E, Mullikin James C, Ganson Nancy J, Kong Heidi H, Hambleton Sophie, Candotti Fabio, Quezado Martha M, Calvo Katherine R, Alao Hawwa, Barham Beverly K, Jones Anne, Meschia James F, Worrall Bradford B, Kasner Scott E, Rich Stephen S, Goldbach-Mansky Raphaela, Abinun Mario, Chalom Elizabeth, Gotte Alisa C, Punaro Marilynn, Pascual Virginia, Verbsky James W, Torgerson Troy R, Singer Nora G, Gershon Timothy R, Ozen Seza, Karadag Omer, Fleisher Thomas A, Remmers Elaine F, Burgess Shawn M, Moir Susan L, Gadina Massimo, Sood Raman, Hershfield Michael S, Boehm Manfred, Kastner Daniel L, Aksentijevich Ivona
Abstract excerpt
BACKGROUND: We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood. METHODS: We performed whole-exome sequencing in the initial three patients and their unaffected parents and...
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