Mutations of NOD2 are also linked to Crohn’s disease (CD; OMIM #266600) and early-onset sarcoidosis (EOS, OMIM #609464); in EOS and BS, mutations in the nucleotide-binding oligomerization domain results in increased NF-κB activity (Maekawa et al., 2016). The gene discussed is NFKB1; the disease is Blau syndrome.