proteasome-associated autoinflammatory syndrome 1

A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation an

A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21.

Signs and symptoms

• Flexion contracture
• Flexion contracture of finger
• Increased circulating interleukin 8 concentration
• Increased circulating interleukin 6 concentration
• Erythema nodosum
• Arthralgia
• Skin plaque
• Increased circulating IgG concentration
• Increased circulating interferon-gamma concentration
• Lipodystrophy

Also known as: CANDLE; JMP syndrome; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; NKJO; Nakajo-Nishimura syndrome