ADA2 (DADA2)AP1S3 (_)CARD14 (PRP/PSORS2)IL10 (IL10 deficiency)IL10RA (IL10R1 deficiency)IL10RB (IL10R2 deficiency)IL1RN (DIRA)IL36RN (DITRA)LACC1 (sJIA)LPIN2 (Majeed Syndrome)
MEFV (FMF)MVK (MKD/DSAP/RP)NCSTN (PASH)NLRC4 (AIFEC)NLRP1 (NAIAD)NLRP12 (NAPS12)NLRP3 (CAPS)NLRP7 (HYDM1)NOD2 (CD/BS/EOS)OTULIN (AIPDS)
PLCG2 (APLAID/PLAID)POMP (PRAAS2)PSMA3 (CANDLE/PRAAS)PSMB4 (CANDLE/PRAAS3)PSMB8 (JMP/NNS/CANDLE)PSMB9 (CANDLE/PRAAS3)PSMG2 (CANDLE/PRAAS4)PSTPIP1 (PAPA)RBCK1 (PBMEI)
SH3BP2 (Cherubism)SLC29A3 (H syndrome)TMEM173 (SAVI)TNFAIP3 (AISBL)TNFRSF11A (TRAPS11)TNFRSF1A (TRAPS)TRNT1 (SIFD)WDR1 (PFIT)

The registry of Hereditary Auto-inflammatory Disorders Mutations

  • Population Frequencies (GnomAD v2.1.1 via Annovar) added
  • Eurofever phenotypes (as from Papa et al, 2017) now available
  • Last gene(s) added: POMP
  • Send us your re-evaluation proposal for variant pathogenicity scores here
  • Send us your variants in batch. Fill in the file and send it to the webmaster
Chief Editor: Isabelle Touitou
Editorial Board
Editorial Board
Editorial Board
Editorial Board
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