Excess Serum Interleukin‐18 Distinguishes Patients With Pathogenic Mutations in <scp> <i>PSTPIP1</i> </scp>

Abstract

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