Table 1.
Summary of the main genetic and clinical features of monogenic autoinflammatory disorders.
| Disease | Gene locus | Protein | Inheritance | Prominent clinical features |
| FMF | MEFV 16p13.3 | Pyrin | AR | Fever, serositis, arthralgias or arthritides, erysipelas-like eruption on the legs, amyloidosis in untreated or resistant or non-compliant patients |
| TRAPS | TNFRSF1A 12p13 | Tumor necrosis factor receptor 1 | AD | Fever, migrating muscle and joint involvement, arthralgias or arthritides, serosal involvement, steroid responsiveness of febrile attacks, conjunctivitis, periorbital edema, amyloidosis |
| MKD | MVK 12q24 | Mevalonate kinase | AR | Fever, polymorphous rash, arthralgias, abdominal pain, diarrhea, lymphnode enlargement, headache, splenomegaly, oral aphthosis |
| FCAS | Fever, cold-induced urticaria-like rash, conjunctivitis, arthralgias | |||
| MWS | NLRP3 1q44 | Cryopyrin | AD | Fever, urticaria-like rash, conjunctivitis, arthralgias, neurosensorial deafness, amyloidosis |
| NOMID | Fever, urticaria-like rash, uveitis, papilledema, deforming arthritides involving large joints (knees), aseptic chronic meningopathy, neurosensorial deafness, amyloidosis | |||
| NLRP12AD | NLRP12 19q13 | Monarch-1 | AD | Fever, arthralgias, cold-induced urticaria-like rash |
| BS | NOD2 (CARD15) 16q12.1–13 | NOD2 | AD | Granulomatous dermatitis with ichthyosis-like changes, granulomatous polyarthritis, camptodactyly, recurrent panuveitis, intermittent fevers |
| PAPAs | PSTPIP1 15q24–q25.1 | CD2 antigen-binding protein 1 | AD | Pyoderma gangrenosum, cystic acne, sterile pyogenic oligoarthritis |
| MS | LPIN2 18p11.31 | Lipin 2 | AR | Recurrent multifocal osteomyelitis, dyserythropoietic anemia, neutrophilic chronic dermatosis |
| DIRA | IL1RN 2q14 | Interleukin-1 receptor antagonist | AR | Multifocal osteomyelitis, diffuse pustular rash with neonatal onset |
FMF, familial Mediterranean fever; TRAPS, tumor necrosis factor receptor-associated periodic syndrome; MKD, mevalonate kinase deficiency syndrome; FCAS, familial cold autoinflammatory syndrome; MWS, Muckle–Wells syndrome; NOMID, neonatal onset multisystem inflammatory disease; NLRP12AD, NLRP12-associated autoinflammatory disorder; BS, Blau syndrome; PAPAs, pyogenic arthritis, pyoderma gangrenosum, acne syndrome; MS, Majeed syndrome; DIRA, deficiency of interleukin-1 receptor antagonist; AR, autosomal recessive; AD, autosomal dominant.