Systemic Lupus Erythematous (SLE) panel [69 genes]

Monogenic forms of lupus are rare and frequently catalogued as lupus-like syndromes, which present some clinical features of systemic lupus erythematous (SLE) and result from T or B lymphocyte dysregulation, uncontrolled inflammatory responses, or loss of immune tolerance. Only a few cases of familial lupus have been reported in the literature with disease-causing mutations. Several rare autoimmune disorders can present overlapping phenotypes with SLE. Other immune-related diseases could also increase the predisposition to develop compatible SLE symptomatology. Variant interpretation is important in these familial forms, as it can modify patient management and guide genetic counselling.

Clinical features

  • Chilblain lupus
  • Vasculitis
  • Arthralgias
  • Chronic autoinflammation
  • SLE or lupus-like symptoms
  • Multisystemic features

Prevalence

  • Unknown (rare monogenic forms)
  • ~0.5% of general population (SLE)

Service benefits and management

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

ACP5, ADAR, APOL1, BANK1, BLK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CR2, CTLA4, CYBB, DNASE1, DNASE1L3, ETS1, FCGR2A, FCGR2B, HAS2, IFIH1, IKZF1, IRAK1, IRF5, IRF7, IRF8, ISG15, ITGAM, KRAS, MAN2B1, MASP2, MBL2, MICB, NCF1, NCF2, PDCD1, PEPD, PRKCD, PTEN, PTPN22, RAG2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, STAT1, STAT4, TLR5, TMEM173, TNFAIP3, TNFSF4, TNIP1, TREX1, TRIM21, TYK2, UBE2L3, XKR6

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