Table 1 Summary of monogenic autoinflammatory diseases [7]
Monogenic auto inflammatory diseases | Mode of inheritance/gene (protein) | Main clinical features | Treatment |
|---|---|---|---|
Familial Mediterranean fever | Recessive MEFV (Pyrin) | Recurrent fever (12–72) h, arthritis, and serositis (abdominal pain and thoracic pain) | Colchicine (IL-1 blockade in refractory cases or colchicine side-effects) |
TNF receptor-associated periodic syndrome | Dominant TNFRSF1A (TNFR1) | Recurrent fever (1–3) weeks arthromyalgia, fasciitis, rash, conjunctivitis periorbital edema, and splenomegaly | IL-1 blockade Corticosteroids/Etanercept/NSAID/Colchicine |
Hyperimmunoglobulinemia with periodic fever syndrome | Recessive (Mevalonate Kinase gene) | Recurrent fever(3-7) days, abdominal pain, diarrhea, hepato-splenomegaly, and lymphadenopathy | IL-1 blockade/NSAID Corticosteroids/TNF blockade |
Familial cold auto inflammatory syndrome | Dominant NLRP3 (Cryopyrin) | Recurrent fever (12 h–2 days), and cold-induced urticaria-like rash, conjunctivitis, and arthralgia | IL-1 blockade |
Muckle–Wells syndrome | Dominant NLRP3 | Recurrent fever (2–3) days if present, urticaria rash, and sensori-neuronal deafness | IL-1 blockade |
Neonatal onset multi systemic inflammatory disorder | Dominant NLRP3 | Subcontinuous fever, rash, neurologic symptoms, and skeletal abnormalities | IL-1 blockade |
Pyogenic arthritis pyoderma gangrenosum and acne syndrome | Dominant (PSTPIP1) | Pyoderma gangrenosum, cystic acne, and sterile pyogenic oligoarthritis | Corticosteroids, anakinra, Infliximab, immunosuppressive agent |
Deficit of IL-1 receptor antagonist | Recessive IL1RN (IL1 receptor antagonist) | Neonatal onset-multifocal osteomyelitis, periostitis, neonatal onset-pustular rash | Anakinra |
Majeed’s syndrome | Recessive LPIN2 (LPIN2) | Recurrent multifocal osteomyelitis, dyserythropoietic anemia, and chronic dermatosis | Corticosteroids, Bisphosphonates TNF-inhibitor IL-1 antagonist (anakinra) |
Blau’s syndrome | Dominant NOD2/CARD15 (CARD15) | Intermittent fever, granulomatous dermatitis, polyarthritis, recurrent panuveitis | Corticosteroids/TNF-α inhibitor(infliximab), IL-1 antagonists |