Table 1: Genetic and clinical features of PFSs and correlated treatments.

DiseaseGene
(Chromosome)
Transmission ProteinClinical manifestationTreatment
DrugsBiologicsSurgery

FMFMEVF   
(16p13.3)
ARPyrinFever, serositis, sterile peritonitis, monoarthritis, pleuritis, and
skin erythema
ColchicineAnakinra
Canakinumab
Etanercept
Infliximab
Adalimumab

MKDMVK   
(12q24)
ARMevalonate kinaseFever, lymphadenopathy, abdominal pain, and skin rashSteroidsEtanercept
Adalimumab
Anakinra
Canakinumab

TRAPSTNFRSF1A   
(12p13)
ADp55 TNF-receptorProlonged fever, abdominal pain, erythematous macules, peritonitis, myalgias, arthralgias, periorbital oedema, and amyloidosisHigh-dosage corticosteroidsEtanercept
Infliximab
Adalimumab
Anakinra
Tocilizumab

NLRP-related diseases
 FCAS1
NLRP3/CIAS1   
(1q44)
ADCryopyrinFever, urticarial skin rash, arthralgia, and conjunctivitisAnakinra
Rilonacept, Canakinumab
 FCAS2NLRP12  
(19q13)
ADNLRP12Fever, skin rash, lymphadenopathy, aphthous ulcers, and abdominal painSteroidal or nonsteroidal anti-inflammatoryAnakinra
Rilonacept
Canakinumab

PFAPAND NDNDFever, pharyngitis, cervical adenitis, and aphthous stomatitisCorticosteroids,
colchicine
Tonsillectomy adenoidectomy

PFAPA: periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis; FMF: familial mediterranean fever; MKD: mevalonate kinase deficiency; NLRP: NOD-like receptor protein; CIAS: cold-induced autoinflammatory syndrome; FCAS: familial cold autoinflammatory syndrome; TRAPS: TNF-receptor-associated periodic syndrome; AR: autosomal recessive; AD: autosomal dominant; ND: not defined.