Table 1

Genes responsible for monogenic autoinflammatory diseases and their corresponding mode of transmission, disease names and key symptoms

Gene nameTransmissionDisease namesKey symptoms
HistoricalClinicalPhysiological
CARD14*DominantPRPFollicular papules, scaly red-orange patches, palmoplantar hyperkeratosis
IL10RecessiveIBDEarly-onset severe enterocolitis
IL10RARecessiveIBDEarly-onset severe enterocolitis
IL10RBRecessiveIBDEarly-onset severe enterocolitis
IL1RNRecessiveDIRASterile multifocal osteomyelitis, periostitis, pustular psoriasis
IL36RNRecessiveDITRAPsoriasis-associated pustular phenotypes
LPIN2RecessiveMajeeds syndromeCRMO (subtype of)Multifocal osteomyelitis, dyserythropoietic anaemia, neutrophilic dermatosis
MEFVRecessiveMamou and CattanFMF (periodic fever)Recurrent fever, peritonitis, arthralgia, erythema
Dominant†FMFRecurrent fever, peritonitis, arthralgia, erythema
MVKRecessiveDutch-type feverHIDSMKD, mildRecurrent fever, vomiting, diarrhoea, arthralgias, skin signs, lymphadenopathy
RecessiveMEVAMKD, severeMental and growth retardation, ataxia
DominantDSAPKeratosis
NLRP12DominantGuadeloupean feverFCAS2NAPS12Cold-induced urticaria, recurrent fever, arthralgia
NLRP3DominantFCASCAPS (cryopyrinopathy)Cold-induced urticaria, recurrent fever, arthralgia
DominantMWSCAPS (cryopyrinopathy)Urticaria, sensorineural impairment
DominantCINCA/NOMIDCAPS (cryopyrinopathy)Urticaria, neonatal meningitis
NOD2DominantBlau (Jabs) syndromeGranulomatous arthritis, uveitis, camptodactyly
PLCγ2DominantAPLAIDRecurrent blistering skin lesions, arthralgia, enterocolitis, mild immunodeficiency
PSMB8RecessiveNNSJMP, CANDLERecurrent fever, lipodystrophy
PSTPIP1DominantPAPAPyoderma gangrenosum, acne, pyogenic arthritis
RBCK1§RecessiveChronic autoinflammation, bacterial infections, muscular amylopectinosis
SH3BP2DominantCherubismFibro-osseous lesions
TNFRSF1ADominantHibernian feverTRAPSRecurrent fever, abdominal pain, arthralgia, myalgia, skin lesions
  • Genes responsible for the four first described hereditary recurrent fevers are underlined.

  • *The other CARD14 associated phenotype (PSORS2) was not included because it is currently considered that although innate immunity through NFKB activation contributes to the onset of psoriasis, the ensuing chronic inflammation is mostly driven by T cells.

  • †Not consensual.

  • ‡The phenotypically distinct PLAID (PLCG2-associated Antibody deficiency and Immune Dysregulation)/FCAS3 syndrome associated with this gene does not include autoinflammatory features.

  • §No disease name is yet associated with mutations in this gene.

  • CINCA, cutaneous and articular syndrome; NOMID, neonatal-onset multisystem inflammatory disease.

  • For further acronyms see box 2.