Researchers from the National Institutes of Health (NIH) have identified a genetic disorder that causes a childhood syndrome associated with stroke.
After seeing a cluster of unrelated children over several years who presented with fever, recurrent stroke, and rash, NIH researchers began looking for a genetic cause. The team used whole-exome sequencing in 9 patients who had symptoms varying from stroke to vasculitis and found they all carried recessive mutations in CECR1, which encodes adenosine deaminase 2 (ADA2). Healthy controls rarely had this mutation (Zhou Q et al. N Engl J Med. doi:10.1056/NEJMoa1307361 [published online February 19, 2014).
Kuehn BM. Childhood Stroke Cause Identified. JAMA. 2014;311(12):1192. doi:10.1001/jama.2014.3083