Background
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 |
SAIDs | current management | Recommendation Index |
---|---|---|
MKD | canakinumab | |
anakinra | Recommendation B, canakinumab is unavailable [9] | |
tocilizumab | Recommendation C, IL-1 blockade fails or is unavailable [13] | |
etanercept | Recommendation C, IL-1 blockade fails or is unavailable [12] | |
NSAIDS or glucocorticoids | Recommendation D, mildly affected patients | |
allogeneic stem cell transplantation | Severest cases [17] | |
hemodialysis, kidney transplantation | AA-amyloidosis, kidney failure [15] | |
FMF | Colchicine | Recommendation A, early use after diagnosis [20] |
canakinumab | Recommendation B: the second line: colchicine resistance or intolerance to colchicine, approved by the FDA [23] | |
anakinra | Recommendation C [22] | |
TRAPS | canakinumab | Recommendation A, approved by the FDA [31] |
NSAIDS or glucocorticoids | Mildly affected patients [27] | |
etanercept | Case report [28] | |
anakinra | Case report [29] | |
tocilizumab | Case report [30] | |
hemodialysis, kidney transplantation | AA-amyloidosis, kidney failure [34] | |
PAAND | anakinra | Systemic and/or gastrointestinal inflammation [35] |
adalimumab | Cutaneous and/or articular manifestations [35] | |
isotretinoin | Cutaneous component [35] | |
canakinumab | Systemic and/or gastrointestinal inflammation [35] | |
colchicine and low-dose prednisolone | Case report [36] | |
PAPA | NSAIDS or glucocorticoids | Mildly affected patients [41] |
etanercept, adalimumab and infliximab | Case report [42] | |
anakinra | Case report [41] | |
Canakinumab | Case report [43] | |
retinoids | Case report [41] | |
CAPS | anakinra | Approved by the FDA and EMA [49] |
canakinumab | Approved by the FDA and EMA [52] | |
rilonacept | Approved by the FDA [51] | |
NSAIDS or glucocorticoids | ||
tocilizumab | Case report [55] | |
DIRA | anakinra | |
canakinumab | Case report [62] | |
rilonacept | Case report [61] | |
Majeed syndrome | NSAIDS or glucocorticoids | The first-line [70] |
anakinra | Case report [67] | |
canakinumab | Case report [67] | |
TNF-α blockers or bisphosphonates | Refractory cases [70] | |
NAIAD | corticosteroids | Case report [72] |
acitretin | Case report [71] | |
etanercept or anakinra | Case report [71] | |
NLRC4-MAS | IL-1 blockade | The first-line [74] |
PFIT | hematopoietic stem cell transplantation | Case report [78] |
APIAID | Glucocorticoids | Case report [79] |
IVIG | Case report [79] | |
adalimumab | Case report [79] | |
IL-1 blockers | Case report [84] |