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Table 1 Summary of the gene, transmission and clinical manifestations of IL-1 mediated monogenic SAIDs

From: Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review

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