Behcet’s disease [28 genes]

Behcet´s 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.

  • Oral ulcers
  • Genital ulcers
  • Uveitis
  • Skin lesions
  • Vasculitis
  • CNS disorders
  • Arthritis
  • Elevated levels of circulating proinflammatory cytokines

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

  • Diagnosis and genetic counseling
  • Anti-inflammatories
  • Immunomodulators

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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4. Send the sample & the request

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5. Result: the report

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Behcet's disease

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008190

Behcet’s disease: View panel
  • CCR1
  • CCR3
  • DCLRE1C
  • ERAP1
  • FAS
  • FASLG
  • FUT2
  • ICAM1
  • IKBKG
  • IL10
  • IL12A
  • IL12RB2
  • IL23R
  • IRAK1
  • IRAK4
  • IRF8
  • KLRC4
  • LIMK2
  • MEFV
  • MICA
  • NEIL1
  • NLRC4
  • NLRP3
  • NOD2
  • STAT4
  • TNFAIP3
  • TNFRSF1A
  • UBAC3

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Berteau F, Rouviere B, Delluc A, Nau A, Le Berre R, Sarrabay G, Touitou I, de Moreuil C. Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature. Autoimmun Rev. 2018 Aug;17(8):809-815. doi: 10.1016/j.autrev.2018.02.012. Epub 2018 Jun 8.
  2. Deng Y, Zhu W, Zhou X. Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review. Open Rheumatol J. 2018 Jun 29;12:70-85. doi: 10.2174/1874312901812010070. eCollection 2018.
  3. Puccetti A, Fiore PF, Pelosi A, Tinazzi E, Patuzzo G, Argentino G, Moretta F, Lunardi C, Dolcino M. Gene Expression Profiling in Behcet’s Disease Indicates an Autoimmune Component in the Pathogenesis of the Disease and Opens New Avenues for Targeted Therapy. J Immunol Res. 2018 Apr 24;2018:4246965.doi: 10.1155/2018/4246965. eCollection 2018.
  4. Sun M, Yang P, Yang Y, Ye J. Upregulated IRAK1 and IRAK4 promoting the production of IFN-Y and IL-17 in Behcet’s disease. Int Ophthalmol. 2018 Oct;38(5):1947-1953. doi: 10.1007/s10792-017-0682-4. Epub 2017 Aug 5.