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).

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