Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Christopher Silvin, Qing Zhou, Deborah L. Stone, Geryl Wood, James C. Mullikin, Nicholas J. Patronas, Theo Heller, John S. Barber, Amanda K. Ombrello, Alejandra Negro, Dan Yang, Anton V. Zavialov, Patrycja Hoffmann, Wuhong Pei, Karyl S. Barron, Alexander Ling, Joshua D. Milner, Sergio D. Rosenzweig, Heidi H. Kong, David T. Chin, David E. Kleiner, Wanxia Li Tsai, Chyi‐Chia Richard Lee, Sophie Hambleton, Hye Sun Kuehn, Camilo Toro, Andrey V. Zavialov, Edward W. Cowen, Jae Jin Chae, Kevin Bishop, Nancy J. Ganson, Susan J. Kelly
Abstract
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.