Table 2

Results from the Delphi questionnaires for consensus on nomenclature

Definition or diseaseGroup of AIDs experts consensus
(n=26)
Definition
 Autoinflammatory diseases are clinical disorders caused by defect(s) or dysregulation of the innate immune system, characterised by recurrent or continuous inflammation (elevated APR) and by the lack of a primary pathogenic role of the adaptive immune system (autoreactive T-cells or autoantibody production).87%
Final names proposed for the AIDs
CARD14-associated psoriasis91%
 CNO: Chronic non-bacterial osteomyelitis87%
 DIRA: Deficiency of the IL-1 receptor antagonist96%
 DITRA: Deficiency of the IL-36 receptor antagonist96%
 IL-10 deficiency-associated inflammatory bowel diseases83%
 PAAD: Pyrin-associated autoinflammatory disease:
 FMF, PAAND
88%
 MKD: Mevalonate kinase deficiency87%
NLRP3-AID—NLRP3-associated autoinflammatory disease88%
NLRP12-AID—NLRP12-associated autoinflammatory disease88%
NOD2-associated granulomatous diseases83%
 PAPA: PSTPIP1-associated arthritis, pyoderma gangrenosum and acne87%
 PFAPA: Periodic fever, aphthous stomatitis, pharyngitis and adenitis83%
 PRAAS: Proteasome-associated autoinflammatory syndrome84%
 Schnitzler syndrome87%
 SDCM—SH3BP2 deficiency with multilocular cystic disease of the mandibles94%
 TRAPS—TNF receptor-associated periodic fever syndrome83%
  • AIDs, autoinflammatory disease; APR, acute phase reactants; PAAND, pyrin-associated autoinflammation with neutrophilic dermatosis.