proteosome-associated autoinflammatory syndrome 5 (DOID:0060919)
Alliance: disease page
Synonyms: PRAAS5
Alt IDs: OMIM:619175
Definition: A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22.