Excess Serum Interleukin-18 Distinguishes Patients with Pathogenic Mutations in PSTPIP1.

PAPA syndrome is a refractory and often disabling monogenic autoinflammatory disease associated with chronic and unopposed elevation of serum IL-18 but not risk for MAS. These findings affect our understanding of the diseases in which IL-18 is over-produced and suggest a link between pyrin-inflammasome activation, IL-18, and autoinflammation without susceptibility to MAS.