Autoimmune Diseases (AD) panel [156 genes]

Disorders of autoimmunity are mainly a consequence of defects during the generation of autoantigen tolerance mechanisms. Genetic burden has been widely related to autoimmune disorders, existing monogenic forms, and many genetic risk factors. Our approach focuses on monogenic disorders and also includes genetic alterations that confer susceptibility to disease development. Clinical manifestations are frequently characterized by the presence of autoantibodies, tissue damage without known external cause, or lymphocyte homeostasis dysregulation, but they can present with a wide spectrum of symptoms, which makes diagnosis difficult.

Clinical features

  • Autoantibodies
  • Tissue damage
  • Multisystemic
  • Lymphocyte homeostasis dysregulation

Prevalence

  • ~1:10,000 to 1:100,000 (Monogenic forms)

Service benefits and management

  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation
  • Anti-inflammatory therapy
  • Immunosuppressors
  • Monoclonal antibodies
  • Hematopoietic stem cell transplantation (HSCT)

ACP5, ADAR, AIRE, APOL1, ARID5B, ARPC1B, ATG5, BANK1, BLK, C1QA, C1QB, C1QC, C1QTNF4, C1R, C1S, C2, C3, C4A, C4B, CARD9, CASP10, CASP8, CCL2, CCL22, CD226, CD27, CD46, CD55, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CIITA, CLEC16A, CR2, CSK, CTLA4, CXCR5, CYBB, DDX58, DGAT1, DNASE1, DNASE1L3, DNMT3A, DOCK8, E2F1 , EPCAM, ETS1, FADD, FAS, FASLG, FCGR2A, FCGR2B, FOXP3, GUCY2C, HAS2, HNF1A, ICOS, IFIH1, IKZF1, IKZF3, IL10, IL12A, IL12B, IL2RA, IRAK1, IRF2BP2, IRF5, IRF7, IRF8, ISG15, ITGAM, ITK, KIRREL2, KRAS, LAT, LCK, LRBA, MAN2B1, MASP2, MBL2, MC2R, MCM4, MECP2, MICB, MME, MRAP, MTMR3, MYH9, MYO5B, NCF1, NCF2, NEUROG3, NFAT5 , NLRC4, NOD2, NPHS1, NR0B1, NRAS, OAS1, OAS2, PBX1, PDCD1, PDGFRA, PEPD, PLA2R1, PRDM1, PRKCD, PRKG1, PSMB8, PTEN, PTPN22, PTPRC, PXK, RAG2, RASGRP1, REL, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH2D1A, SKIV2L, SLC26A3, SLC9A3, SPATA5, SPINT2, STAT1, STAT3, STAT4, STAT5B, STK4, TAP1, TCF7, THBD, THBS1, THSD7A, TLR5, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF4, TNFSF4, TNIP1, TREX1, TRIM21, TTC37, TYK2, UBE2L3, UHRF1BP1, XKR6, ZAP70

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