Autoinflammatory Diseases (AID) panel [145 genes]

Autoinflammatory diseases (AID) are immune-related disorders that primarily affect the innate immune system, characterized by recurrent episodes of inflammation. There are monogenic forms of AID with high penetrance, as well as forms that are more prone to be affected by environmental factors, complicating their diagnosis. Both gain-of-function mutations in genes inducing the pro-inflammatory response and loss-of-function mutations in genes controlling the inhibition of the inflammatory response can cause these disorders.

Clinical features

  • Inflammation
  • Fever
  • Arthralagia
  • Skin lesions
  • Multisystemic

Prevalence

  • ~1:5,000 to 1:100,000 (Monogenic forms)

Service benefits and management

  • Anti-inflammatory therapy
  • Immunosuppressors
  • Monoclonal antibodies
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

ABCB1, ADA2, ADAM17, ADAR, ADGRE2, AIRE, ANXA11, ARPC1B, ATG16L1, BTNL2, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CALCOCO2, CARD14, CCDC88B, CCR1, CCR3, CCR5, CCR9, CD14, CD40, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CTLA4, CXCL13, CXCR5, DGKE, EGFR, ERAP1, F12, FAS, FASLG, FCN3, FOXP3, FUT2, GUCY2C, ICAM1, IFIH1, IL10, IL10RA, IL10RB, IL12A, IL12RB1, IL12RB2, IL15, IL15RA, IL18R1, IL1RN, IL23A, IL23R, IL2RA, IL36RN, IL7R, IRF1, IRF2BP2, IRF5, IRF8, IRGM, KLRC4, LACC1, LIMK2, LPIN2, MASP1, MASP2, MBL2, MEFV, MICA, MST1, MTHFR, MVK, NCF1, NEIL1, NFKB1, NFKBIA, NLRC4, NLRP12, NLRP3, NOD2, NR4A2, OAS1, OTULIN, PLCG2, PSMB8, PSTPIP1, PTGS2, PTPN2, PTPN22, RBCK1, RNASEH2A, RNASEH2B, RNASEH2C, SAA1, SAMHD1, SATB1, SERPING1, SLC9A3, STAT1, STAT3, STAT4, STAT6, TAGAP, TAP1, TGFB1, THBD, TLR7, TLR8, TLR9, TMEM173, TNF, TNFAIP3, TNFRSF11A, TNFRSF1A, TNFSF15, TREX1, TRNT1, TTC7A, UBAC2, UBE2L3, WDR1, XIAP

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