Autoinflammatory Diseases with Recurrent Fever panel [12 genes]

This panel groups autoinflammatory diseases with recurrent non-infectious febrile episodes as common manifestation, including familial Mediterranean fever, familial cold urticaria, familial periodic fever, and Majeed syndrome. Genes in this panel are important modulators of innate immunity intervening in several processes such as inflammasomes production, apoptosis, TNF, and NF-kappaB-mediated signalling, among others. Patients can also show Behçet-like phenotype, inflammatory bowel disease, systemic lupus erythematosus, rheumatoid arthritis, serum amyloidosis, and other clinical features.

Clinical features

  • Recurrent fever
  • Arthralagia
  • Skin lesions (rash)
  • Renal afection

Prevalence

  • 1:5,000-10,000 (FMF)
  • 1:1,000,000 (Majeed syndrome)
  • 1:1,000 (TRAPS)
  • <1:1,000,000 (FCAS)

Service benefits and management

  • Monoclonal antibodies
  • Antimycotics (colchicine)
  • Anti-inflammatory therapy
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

ADA2, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, PLCG2, SAA1, TNFAIP3, TNFRSF1A, TRNT1

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