Ivona Aksentijevich

TL;DR: The cloning of the FMF gene promises to shed light on the regulation of acute inflammatory responses and is described as a member of a family of nuclear factors homologous to the Ro52 autoantigen.

TL;DR: It is proposed that the autoinflammatory phenotype results from impaired downregulation of membrane TNFR1 and diminished shedding of potentially antagonistic soluble receptor inTNFR1-associated periodic syndromes.

TL;DR: An updated classification scheme based on molecular pathophysiology will bring greater clarity to discourse while catalyzing new hypotheses both at the bench and at the bedside, supplanting a clinical classification that has served well but is opaque to the genetic, immunologic, and therapeutic interrelationships now before us.

TL;DR: Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations.

TL;DR: The term deficiency of the interleukin-1-receptor antagonist, or DIRA, is proposed to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN, resulting in life-threatening systemic inflammation with skin and bone involvement.