Table 1.
Monogenic autoinflammatory diseases driven by IL-1
| Disease | Gene | Presentation | Therapeutic target |
|---|---|---|---|
| FCAS | NLRP3 | Cold urticaria, chills, conjunctivitis, myalgia/arthralgia, fever | IL-1 |
| MWS | NLRP3 | Sensorineural hearing loss, urticarial rash, conjunctivitis, myalgia/arthralgia, fever | IL-1 |
| NOMID | NLRP3 | CNS inflammation (chronic aseptic meningitis, vision loss, hearing loss), knee arthropathy, urticarial rash, fever | IL-1 |
| FMF | MEFV | Serosal pain (abdominal, chest), arthralgia, erysipeloid rash, fever | IL-1 |
| PAAND | MEFV | Sterile skin abscesses, myalgia, myositis, rash, fever | IL-1, TNF |
| HIDS | MVK | Triggered by vaccination, abdominal pain, vomiting, rash, myalgia/arthralgia, aphthous ulcers, fever | IL-1, TNF |
| MA | MVK | Developmental delay, FTT, dysmorphic features, recurrent fever | IL-1, TNF |
| TRAPS | TNFRSF1A | Painful centrifugal rash, periorbital oedema, prolonged fever, abdominal pain, headache, conjunctivitis, myalgia/arthralgia | IL-1, TNF |
| DIRA | IL1RN | Pustular rash, sterile osteomyelitis, periostitis, hepatosplenomegaly, fever | IL-1 |
| PAPA | PSTPIP1 | Pyoderma gangrenosum, arthritis, acne | IL-1, TNF |
| Hz/Hc | PSTPIP1 | Rash, FTT, hepatosplenomegaly, neutropenia | IL-1, TNF |
| CDC42/NOCARH | CDC42 | Pancytopenia, neurodevelopmental defects, facial dysmorphism, recurrent infection, rash, MAS/HLH, fever | IL-1 |
| Majeed syndrome | LPIN2 | Osteomyelitis, dyserythropoietic anaemia, rash, fever | IL-1 |
CNS, central nervous system; DIRA, deficiency of IL1 receptor antagonist; FCAS, familial cold autoinflammatory syndrome; FMF, familial Mediterranean fever; FTT, failure to thrive; HIDS, hyper IgD syndrome; Hz/Hc, hyperzincaemia/hypercalprotectinaemia; HLH, haemophagocytic lymphohistiocytosis; MA, mevalonic aciduria; MAS, macrophage activation syndrome; MKD, mevalonate kinase deficiency; MWS, Muckle–Wells syndrome; NOCARH, neonatal-onset cytopenia with dyshaematopoiesis, autoinflammation, rash, and HLH; NOMID, neonatal-onset multisystem inflammatory disease; PAAND, pyrin-associated autoinflammation with neutrophilic dermatosis; PAPA, pyogenic arthritis, pyoderma gangrenosum and acne; TNF, tumour necrosis factor; TRAPS, tumour necrosis factor receptor-associated periodic syndrome.