| Disease | Gene locus | Protein | Inheritance | Clinical features | Treatment |
| FMF | MEFV 16p13.3 | Pyrin (marenostrin) | AR | Fever, serositis, arthralgias or arthritides, erysipelas-like eruption on the legs, and systemic amyloidosis in untreated or noncompliant patients | Colchicine, anakinra, and canakinumab | MKD | MVK 12q24 | Mevalonate kinase | AR | Fever, polymorphous rash, arthralgias, abdominal pain, diarrhea, lymph node enlargement, splenomegaly, and aphthosis | NSAIDs, corticosteroids, anakinra, and anti-TNF-α agents | TRAPS | TNFRSF1A 12p13 | Tumor necrosis factor receptor 1 | AD | Fever, migratory muscle and joint involvement, conjunctivitis, periorbital edema, arthralgias or arthritis, serosal involvement, corticosteroid responsiveness of inflammatory attacks, and risk of amyloidosis | Corticosteroids, etanercept, and anakinra | FCAS | NLRP3 1q44 |
Cryopyrin |
AD | Fever, cold-induced urticaria-like rash, conjunctivitis, and arthralgias |
Anakinra, rilonacept, and canakinumab | MWS | Fever, urticaria-like rash, conjunctivitis and episcleritis, arthralgias, neurosensorial deafness, and amyloidosis | CINCAs | Subcontinuous fever, early-onset urticaria-like rash, clubbing, corneal clouding, anterior or posterior uveitis, papilledema, retinopathy with scarring, optic nerve atrophy, aseptic chronic meningitis, increased intracranial pressure, inner ear inflammation with neurosensorial deafness, deforming osteoarthritis involving large joints, bony overgrowth, joint contractures, severe growth retardation with facial dysmorphic features (frontal bossing and flattening of the nasal bridge), and amyloidosis | NLRP12-AD | NLRP12 19q13 | Monarch-1 | AD | Fever, arthralgia, cold-induced urticaria-like rash, abdominal complaint, and risk of sensorineural deafness | Antihistamines, NSAIDs, anakinra, anti-TNF-α agents, and IL-6 receptor antagonists | BLAUs | NOD2 (CARD15) 16q12.1-13 | NOD2 | AD | Granulomatous dermatitis with ichthyosis-like changes, symmetrical granulomatous polyarthritis, recurrent granulomatous panuveitis, risk of cranial neuropathies, and intermittent fever | Corticosteroids, immunosuppressive agents, anti-TNF-α agents, and thalidomide | PHIDs | SLC29A3 10q22 | hENT3 | AR | Fever, pigmented skin lesions, hypertrichosis, insulin-dependent diabetes mellitus, pancreatic insufficiency, cardiomyopathy, lipodystrophy, scleroderma-like lesions, short stature, and delayed puberty | Etoposide? | NNS | PSMB8 6p21 |
Inducible subunit β of the proteasome |
AR | Fever, long clubbed fingers and toes with joint contractures, lipomuscular atrophy, pernio-like rash in hands and feet, heliotrope rash on the eyelids, nodular skin lesions, basal ganglia calcification, and hepatosplenomegaly | Corticosteroids, anti-TNF-α agents, and anti-IL-1 agents | CANDLEs | Recurrent fever, arthralgia, purplish skin lesions, abnormal growth of lips, lipodystrophy, hypertrichosis, acanthosis nigricans, alopecia areata, nodular episcleritis, conjunctivitis, chondritis of the nose and ear, aseptic meningitis, and basal ganglia calcification | Corticosteroids, anti-TNF-α agents, IL-6 receptor antagonists, and baricitinib | PAPAs | PSTPIP1 15q24-q25.1 | CD2BP1 | AD | Pauciarticular pyogenic arthritis, osteocartilaginous erosions of joints, cystic acne, ulcerative lesions of lower limb extremities, and pyogenic abscesses | Corticosteroids, etancercept, infliximab, and anakinra | DIRA | IL1RN 2q14.2 | IL-1 receptor antagonist | AR | Neonatal multifocal osteomyelitis, periostitis with osteolytic lesions, pustulous, and ichthyosis skin rash | Anakinra and corticosteroids | DITRA | IL36R 2q14 | IL-36 receptor antagonist | AR | Fever, pustulous skin lesions on the palms and soles, glossitis, arthritis, severe bone pain, and asthenia | Corticosteroids, methotrexate, cyclosporine, anakinra, and acitretin | MAJEEDs | LPIN2 18p11.31 | Lipin-2 | AR | Recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, neutrophilic dermatosis with palmoplantar pustulosis, or pyoderma gangrenosum | NSAIDs, corticosteroids, anakinra, and canakinumab | CRMO |
Unknown, presumably polygenetic trait | Currently unknown | Osteomyelitis, bone pain with localized osteolysis, potential association with Sweet’s syndrome, acne, or inflammatory bowel disease, recurrent fever | NSAIDs, corticosteroids, bisphosphonates (pamidronate, neridronate), and anti-TNF-α agents (infliximab) |
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