Nakajo-Nishimura syndrome (NNS) is a very rare disorder starting in infancy with pernio-like rashes during the first cold months, gradually evolving into lipodystrophy mainly in the face and upper extremities and remittent fevers, firstly described in 1939 in Japan [99, 100, 108]; a distinct homozygous PSMB8 mutation encoding the proteasome β5i subunit has been identified as its genetic cause, leading to reduced proteolytic activity and accumulation of ubiquitin proteins. Here, PSMB8 is linked to proteosome-associated autoinflammatory syndrome.