|
Disease | Gene (Chromosome) | Transmission |
Protein | Clinical manifestation | Treatment |
| | | | | Drugs | Biologics | Surgery |
|
FMF | MEVF (16p13.3) | AR | Pyrin | Fever, serositis, sterile peritonitis, monoarthritis, pleuritis, and skin erythema | Colchicine | Anakinra Canakinumab Etanercept Infliximab Adalimumab | |
|
MKD | MVK (12q24) | AR | Mevalonate kinase | Fever, lymphadenopathy, abdominal pain, and skin rash | Steroids | Etanercept Adalimumab Anakinra Canakinumab | |
|
TRAPS | TNFRSF1A (12p13) | AD | p55 TNF-receptor | Prolonged fever, abdominal pain, erythematous macules, peritonitis, myalgias, arthralgias, periorbital oedema, and amyloidosis | High-dosage corticosteroids | Etanercept Infliximab Adalimumab Anakinra Tocilizumab | |
|
NLRP-related diseases
| | | | | | | |
FCAS1
| NLRP3/CIAS1 (1q44) | AD | Cryopyrin | Fever, urticarial skin rash, arthralgia, and conjunctivitis | | Anakinra Rilonacept, Canakinumab | |
FCAS2 | NLRP12 (19q13) | AD | NLRP12 | Fever, skin rash, lymphadenopathy, aphthous ulcers, and abdominal pain | Steroidal or nonsteroidal anti-inflammatory | Anakinra Rilonacept Canakinumab | |
|
PFAPA | ND | ND | ND | Fever, pharyngitis, cervical adenitis, and aphthous stomatitis | Corticosteroids, colchicine | | Tonsillectomy adenoidectomy |
|