Treatment of refractory Yao syndrome with canakinumab

Abstract

Yao Syndrome (YAOS), formerly designated nucleotide-binding oligomerization domain 2 (NOD2)-associated autoinflammatory disease, consists of recurrent fever, rash, arthritis, distal extremity swelling, gastrointestinal symptoms, and sicca-like symptoms (YAOS; OMIM 617321).1,2 YAOS is a genetically complex disorder involving multiple loci of the NOD2 gene, which encodes a pattern recognition receptor important in the innate immune response.3 NOD2 gene variants have also been implicated in Blau Syndrome (BS) and Crohn’s Disease (CD).

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