Table 1

Current name of the disorder (in bold) and additional names (normal characters) derived from the literature

Current name of the disorder and additional namesProposed nomenclature
CAPS—Cryopyrin-associated periodic fever syndrome 22 NLRP3-associated autoinflammatory disease (NLRP3-AID)
 CINCA—Chronic infantile neurological, cutaneous and articular syndrome,19 NOMID—Neonatal onset multisystem inflammatory diseaseSevere
 MWS—Muckle-Wells syndrome20 Moderate
 FCAS—Familial cold autoinflammatory syndrome21 Mild
CARD14-associated disease CARD14-associated psoriasis
 PRP—Familial pityriasis rubra pilaris32
 CAMPS—CARD14-mediated pustular psoriasis33
Cherubism 45 SH3BP2 deficiency with multilocular cystic disease of the mandibles (SDCM)
 Familial multilocular cystic disease of the jaws46
 Cherubism—familial fibrous dysplasia of the jaws47
 CGCL—Central giant cell lesion48
CRMO—Chronic recurrent multifocal osteomyelitis 31 Chronic non-bacterial osteomyelitis (CNO)—(when the gene is known it should be added)
Majeed syndrome,28 congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis30
LIPIN2-associated disease 29 LPIN2-CNO
DIRA—Deficiency of the IL-1 receptor antagonist 26 (No change)
DITRA—Deficiency of the IL-3 6receptor antagonist 27 (No change)
FCAS2—Familial cold autoinflammatory syndrome 2 36 NLRP12-associated autoinflammatory disease (NLRP12-AID)
 Guadeloupe fever, NALP12 periodic fever syndrome36
Pyrin-associated autoinflammatory disease (PAAD)
FMFFamilial Mediterranean fever 9 (No change)
 Benign paroxysmal peritonitis,6 periodic disease,7 Armenian disease, periodic disease ‘Maladie periodique’,8 FMF,9 recurrent polyserositis,10 familial paroxysmal polyserositis11
PAAND—Pyrin-associated autoinflammation with neutrophilic dermatosis 12 (No change)
JMP Proteasome-associated autoinflammatory syndrome (PRAAS)
Joint contractures, muscle atrophy, microcytic anaemia and panniculitis-induced lipodystrophy,40 PSMB8-PRAAS, PSMB4/PSMB9-PRAAS, PSMB4/PSMB9-PRAAS, PSMA3/PSMB8-PRAAS
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, 39 Nakajo-Nishimura syndrome (NNS)41
Mevalonate kinase disease (deficiency)15 16 Mevalonate kinase deficiency  (MKD)
HIDS—Hyper IgD syndrome 17
Mevalonic aciduria
Dutch type periodic fever18 (Add porokeratosis or retinitis pigmentosa when present)
IL-10 deficiency IL-10 deficiency-associated inflammatory bowel disease
 IBD—IL-10R-associated very early34
 Infantile colitis35
NOD2 CARD15-associated disease NOD2-associated granulomatous disease
(Optional: add Blau syndrome or IBD according to the main clinical features)
 Blau syndrome,23 early onset sarcoidosis,24 familial Crohn’s disease25
PAPA/Pyogenic arthritis, pyoderma gangrenosum and acne syndrome 37 38 PSTPIP1-associated arthritis, pyoderma gangrenosum and acne (PAPA)
PFAPA—Periodic fever, aphthous stomatitis, pharyngitis and adenitis (No change)
 Periodic fever, aphthous stomatitis, pharyngitis and adenitis or periodic fever aphthous pharyngitis and cervical adenopathy43
 Marshall’s syndrome44
Schnitzler syndrome 42 (No change)
 PUPAP—Periodic fever with urticaria and paraprotein
TRAPS—TNF receptor-associated periodic fever syndrome 3 (No change)
 Familial Hibernian fever13
 Familial autosomal-dominant periodic fever14
  • The last column reports the proposed nomenclature for the AIDs as results of the consensus process.

  • AIDs, autoinflammatory diseases.