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

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

NEW ENGLAND JOURNAL OF MEDICINE, cilt.370, sa.10, ss.911-920, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 370 Sayı: 10
Basım Tarihi: 2014
Doi Numarası: 10.1056/nejmoa1307361
Dergi Adı: NEW ENGLAND JOURNAL OF MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.911-920
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

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.