proteasome-associated autoinflammatory syndrome 3

A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I

A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21.

Signs and symptoms

• Flexion contracture
• Hepatomegaly
• Increased circulating immunoglobulin concentration
• Failure to thrive
• Recurrent infections
• Anemia
• Decreased total lymphocyte count
• Lymphadenopathy
• Lipodystrophy
• Acanthosis nigricans

Also known as: PRAAS3