A frameshift mutation (L1007fsinsC) that determines a truncated LRR and a number of point mutations within the LRR of NOD2, mainly, Arg702Trp and Gly908Arg, is associated with NOD2 loss of function in CD, while other mutations associated with gain of function and constitutive NF-kB activation are recorded in Blau Syndrome and early onset sarcoidosis [107]. This evidence concerns the gene NOD2 and Blau syndrome.