proteosome-associated autoinflammatory syndrome 5

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,

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.

Signs and symptoms

• Failure to thrive in infancy
• Hypertriglyceridemia
• Acute phase response
• Hepatomegaly
• Skin rash
• Fever
• Splenomegaly

Also known as: PRAAS5