PAPA syndrome

Etiology
  • Mutation in PSTPIP1
  • → encodes proline-serine-threonine phosphatase interacting protein 1
  • → interacts with pyrin protein (defective in familial Mediterranean Fever)
  • → leading to abnormal inflammatory response
 
Clinical presentation
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Acronym: Pyogenic sterile Arthritis, PG, Acne conglobata