Introduction to Autoinflammatory Diseases
Definition of Autoinflammatory Diseases
Autoinflammatory diseases are genetically defined immune-dysregulatory conditions that typically present in early childhood with systemic inflammation (i.e., fever, rashes) and with disease-specific sterile organ inflammation, with the recruitment of a predominantly innate immune cell infiltrate in affected tissues. Most mutations that cause autoinflammatory diseases affect key innate immune sensor pathways that lead to cytokine dysregulation including IL-1, type 1 IFN, IL-18, and IL-17 and, more generally, increased NFκB signaling.
The term “autoinflammatory diseases” was introduced in 1999 in a seminal paper by Drs. Michael McDermott and Daniel Kastner et al. that reported the genetic cause for the tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) (McDermott et al. 1999). This concept aimed to distinguish familial Mediterranean fever (FMF) and TRAPS, the then only genetically defined “periodic fever...