NOD2 is an intracellular microbial sensor of the innate immune system that can act as a
potent activator and regulator of inflammation. Mutations in the gene encoding NOD2 in
humans have been associated with Crohn's disease (CD), Blau syndrome (BS), and early
onset sarcoidosis (EOS). These diseases have in common features of dysregulated
inflammation, but have very distinct phenotypes, which have been hypothesized to result
from either loss-of-function (CD) or gain-of-function (BS/EOS) mutations. Here we describe …