Mutations of NOD2 were first described in two rare non-caseating granulomatosis diseases, Blau syndrome and early-onset sarcoidosis, which have been included in the group of NF-κB activation disorders or autoinflammatory granulomatous diseases (van Duist et al., 2005; Caso et al., 2014). The gene discussed is NFKB1; the disease is Blau syndrome.