proteosome-associated autoinflammatory syndrome 4

A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features an

A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11.

Signs and symptoms

• Basal ganglia calcification
• Skeletal muscle atrophy
• Delayed speech and language development
• Flexion contracture
• Autoimmune hemolytic anemia
• Hepatomegaly
• Motor delay
• Erythema
• Generalized lipodystrophy
• Edema

Also known as: PRAAS4