Behçet’s disease (BD) panel [27 genes]

Behcet disease (BD) is a chronic inflammatory disease characterized by common manifestations that include uveitis, refractory oral and genital ulcers, skin lesions and other alterations that may affect the gastrointestinal tract, CNS, vasculature, joints, kidney or lung. There is a positive family history in more than 30% of the families affected by BD. Although there exists an association between EB and HLA-B haplotypes, this has been only described in less than 20% of cases, suggesting the involvement of other genetic factors. In addition to predisposing genetic polymorphisms, monogenic forms have been described associated to genes like TNFAIP3, NLRP3, NLRC4, NOD2 or MEFV, taking the name of behcet-like phenotype in cases of autoinflammatory diseases with overlapping symptoms of BD. Defects in genes associated to BD would affect the production of IFN, IL-7, TNF, inflammasome generation and other proinflammatory pathways.

Clinical features

  • Oral ulcers
  • Genital ulcers
  • Uveitis
  • Skin lesions
  • Vasculitis
  • CNS alterations
  • Arthritis
  • Increase of circulating proinflammatory cytokines

Prevalence

  • 1-10:100.000
  • ~1:1.000 (Turkish population)

Service benefits and management

  • Immunomodulators
  • Antiinflammatories
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

CCR1, CCR3, DCLRE1C, ERAP1, FAS, FASLG, FUT2, ICAM1, IL10, IL12A, IL12RB2, IL23R, IRAK1, IRAK4, IRF8, KLRC4, LIMK2, MEFV, MICA, NEIL1, NLRC4, NLRP3, NOD2, STAT4, TNFAIP3, TNFRSF1A, UBAC2

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Cerrar