MVK and hyperimmunoglobulinemia D with periodic fever: Also known as hyperimmunoglobulinemia D syndrome, MKD (OMIM 260920) is an autosomal recessive disease caused by mutations in the MVK gene [102] (Table 1), encoding for the enzyme mevalonate kinase, involved in the ATP-dependent phosphorylation of mevalonic acid into 5-phosphomevalonate.