Proteasome-Associated Autoinflammatory Syndrome 1

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever.

**Synonyms:** - CANDLE - CANDLE - Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) Syndrome - Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome - PRAAS1