Whole exome sequencing showed that 28 of 48 patients had abnormalities, such as inborn errors of metabolism (IEI) and immune dysregulation or lymphoproliferative disorders (Omenn syndrome, chronic granulomatous disease, and autoimmune lymphoproliferative syndrome), as well as new mutations in dysregulated inflammasome activity (monoallelic NLRC4 and NLRP12 and biallelic NLRC4, NLRP3, and NLRP13) (70). Here, NLRP12 is linked to autoimmune lymphoproliferative syndrome.