SAIDS | Gene (encode protein) | Transmission | clinical manifestation |
---|---|---|---|
MKD | MVK (mevalonate kinase) | AR | |
● HIDS | Mild | high fever, rash, gastrointestinal symptoms, lymphadenopathy, splenomegaly, joint pain, and even amyloidosis | |
● MA | Severe | typical HIDS characteristics, mental retardation, dysplasia and mental retardation | |
FMF | MEFV (pyrin) | AR | periodic fever, abdominal pain, chest pain, serositis, rash, amyloidosis |
TRAPS | TNFRSF1A (TNF receptor type 1) | AD | long term periodic fever, abdominal pain, periorbital edema |
PAAND | MEFV (pyrin) | AD | fever, pustular acne, pyoderma, neutrophilic dermatosis, arthralgia |
PAPA | PSTPIP1 (PSTPIP1) | AD | pyoderma, suppurative arthritis, severe cystic acne |
CAPS | NLRP3/CIAS1 (cryoporin) | AD/de novo mutation | |
● FCAS | Mild | cold-induced urticaria, fever, arthralgia | |
● MWS | Moderate | fever, rash, arthralgia, sensorineural deafness | |
● NOMID | Severe | fever, rash, arthritis, aseptic deafness meningitis and sensorineural in newborns | |
DIRA | IL1RN (IL-1 receptor antagonist) | AR | osteitis, pustular lesions |
Majeed syndrome | LPIN2 (LIPIN2) | AR | anemia, osteomyelitis, neutrophilic dermatosis |
NAIAD | NLRP1 (NLRP1) | AD/AR | systemic inflammation, arthritis, dyskeratosis |
NLRC4-MAS | NLRC4 (NLRC4) | AD | repeated MAS, enteritis, cold-induced fever and urticaria, central nervous system inflammation |
PFIT | WDR1 (WDR1) | AR | periodic fever, immune deficiency, thrombocytopenia |
APIAID | PLCG2 (phospholipase Cg2) | AD | cold urticaria, pulmonary interstitial lesions, recurrent blisters, arthralgia, ocular inflammation, enterocolitis and antibody deficiency |