Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Zhou, Qing; Yang, Dan; Ombrello, Amanda; Zavialov, Andrey; Toro, Camilo; Zavialov, Anton; Stone, Deborah; Chae, Jae; Rosenzweig, Sergio; Bishop, Kevin; Barron, Karyl; Kuehn, Hye; Hoffmann, Patrycja; Negro, Alejandra; Tsai, Wanxia; Cowen, Edward; Pei, Wuhong; Milner, Joshua; Silvin, Christopher; Heller, Theo; Chin, David; Patronas, Nicholas; Barber, John; Lee, Chyi-Chia; Wood, Geryl; Ling, Alexander; Kelly, Susan; Kleiner, David; Mullikin, James; Ganson, Nancy; Kong, Heidi; Hambleton, Sophie; Candotti, Fabio; Quezado, Martha; Calvo, Katherine; Alao, Hawwa; Barham, Beverly; Jones, Anne; Meschia, James; Worrall, Bradford; Kasner, Scott; Rich, Stephen; Goldbach-Mansky, Raphaela; Abinun, Mario; Chalom, Elizabeth; Gotte, Alisa; Punaro, Marilynn; Pascual, Virginia; Verbsky, James; Torgerson, Troy; Singer, Nora; Gershon, Timothy; ÖZEN, SEZA; KARADAĞ, ÖMER; Fleisher, Thomas; Remmers, Elaine; Burgess, Shawn; Moir, Susan; Gadina, Massimo; Sood, Raman; Hershfield, Michael; Boehm, Manfred; Kastner, Daniel; Aksentijevich, Ivona

doi:10.1056/nejmoa1307361

Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2

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Zhou Q., Yang D., Ombrello A. K. , Zavialov A. V. , Toro C., Zavialov A. V. , ...More

NEW ENGLAND JOURNAL OF MEDICINE, vol.370, no.10, pp.911-920, 2014 (Journal Indexed in SCI)

Publication Type: Article / Article
Volume: 370 Issue: 10
Publication Date: 2014
Doi Number: 10.1056/nejmoa1307361
Title of Journal : NEW ENGLAND JOURNAL OF MEDICINE
Page Numbers: pp.911-920

Abstract

BackgroundWe 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.