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324977 Proteasome disability syndrome

definition

Proteasome disability syndrome describes a group of autosomal recessively inherited autoinflammatory disorders characterized by lipodystrophy and skin eruptions. The disorders belonging to this group include Nakajo-Nishimura syndrome (NNS), JMP syndrome and CANDLE syndrome (see these terms) and all are caused by mutations in the PSMB8 gene (6p21.3).