Published in:
Open Access
01-11-2013 | Meeting abstract
OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes
Authors:
Q Zhou, A Zavialov, J Chae, M Hershfield, R Sood, S Burgess, A Zavialov, D Chin, M Gadina, R Goldbach-Mansky, A Ombrello, D Stone, I Aksentijevich, D Kastner
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
Login to get access
Excerpt
Here we describe a new genetic disease characterized by fevers and systemic inflammation, livedo reticularis, mild immunodeficiency, and early-onset recurrent lacunar strokes in 5 unrelated patients. …