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