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Oral Diseases
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Marcia Ramos-e-Silva, José Wilson Accioly Filho, Sueli Carneiro, Nurimar Conceição Fernandes
This is a chronic inflammatory disease of uncertain cause and prognosis that has the name of the Turkish dermatologist (Hulusi Behçet [1889–1948]), who described it in 1937. With a predominance among men, in the age group between 20–30 years, Behçet’s disease has an immunologic nature, probably due to association with complement activation and formation of immune complexes (see Chapter 11). Its immunogenetic basis has already been demonstrated, with an increase in HLA-B5, B27, and B12.
Endocrine and reproductive disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Both Graves disease and Hashimoto thyroiditis show strong familial aggregation, with both disorders commonly seen in the same family. A common autoimmune basis is now recognised, association with antigens HLA-Dw3 and HLA-B5 being seen in addition to other abnormalities. About 50% of monozygotic twins are concordant (compared with 5% of dizygotic twins). Clinical thyroid disease in other relatives is much less frequent than the incidence of thyroid antibodies. The lifetime risk probably does not exceed 10%, except in a small number of families where a pattern strongly suggestive of autosomal dominant inheritance is seen.
HLA and Disease Associations
Published in Soldano Ferrone, B. G. Solheim, HLA Typing: Methodology and Clinical Aspects, 2019
B. G. Solheim, L. P. Ryder, A. Svejgaard
The associations between HLA-B35 and sub-acute thyroditis, and between HLA-B5 and Behcet’s disease might be explained by preferential HLA-A, -B, -C restriction in T lymphocyte mediated lysis of virus infected cells. Thus, the HLA-B35 antigen could be particularly effective in the presentation to T effector lymphocytes of a putative thyrotropic virus which may be the cause of this disease.
Rituximab for sight-threatening refractory pediatric Vogt–Koyanagi–Harada disease
Published in Modern Rheumatology, 2018
Raid M. R. Umran, Zaid Y. H. Shukur
Contact with the patient was lost for 14 months and when the patient returned, her condition had worsened with further deterioration in vision and increased intraocular pressure (IOP). A review of this lapsed period of time revealed that the family had consulted two different ophthalmologists who continuously treated her with local steroids and antibiotics with no response. Then the family traveled to Iran, on August 21, 2011, to consult a pediatric rheumatologist who reviewed her condition and found that HLA-B5 and -B51 statuses were positive and diagnosed Behçet's disease, and prescribed methotrexate (10 mg/m2 weekly) and oral prednisolone (30 mg/day). The patient experienced a slight improvement over the next 2 weeks, but after 1 month, her condition deteriorated with ocular pain and marked decrease in vision. On October 1, 2011, her vision in the right eye (RE) and left eye (LE) were 6/9 and 6/36, respectively, with increased IOP in both eyes. On October 29, 2011, a decision was made to start interferon (IFN) alpha-2a for 10 weeks (three million units subcutaneously 3 times/week), but without response; uveitis was more active and IOP was increased in the LE.
A comprehensive overview on the genetics of Behçet's disease
Published in International Reviews of Immunology, 2022
Mahdi Mahmoudi, Saeed Aslani, Akira Meguro, Maryam Akhtari, Yousef Fatahi, Nobuhisa Mizuki, Farhad Shahram
The MHC region encodes HLA and several immune-related genes on chromosome 6. Initial reports in 1973 indicated the association of HL-A5 antigen with BD risk in a Japanese population and then renamed later to HLA-B5, which includes HLA-B*51 [39]. HLA-B*51:01, among over than 250 HLA-B*51 subtypes, has been the most common subtype associated with BD in various races [40–57]. Researches evaluating the whole gene region of HLA-B*51:01 in BD cases with Turkish, Iranian, Japanese, and Jordanian origins demonstrated that all cases harbored HLA-B*51:01:01 and had no variation in the exonic, intronic, or 5′-flanking regions, implying that the HLA-B*51 association is representative of HLA-B*51:01:01 association [58].
Association of killer cell immunoglobulin-like receptor (KIR) genes and their HLA ligands with susceptibility to Behçet’s disease
Published in Scandinavian Journal of Rheumatology, 2018
H Mohammad-Ebrahim, E Kamali-Sarvestani, M Mahmoudi, M Beigy, J Karami, N Ahmadzadeh, F Shahram
HLA-C1Asn80 showed a protective effect against BD (p = 0.002, OR = 0.53, 95% CI 0.38–0.75). Meanwhile, HLA-C2Lys80, HLA-B-Bw4Ile80, HLA-B5, and HLA-B51 were associated with a susceptible risk for BD (p = 0.009, OR = 1.67, 95% CI 1.16–2.39; p = 0.002, OR = 2.97, 95% CI 2.13–4.13; p = 0.002, OR = 4.82, 95% CI 3.49–6.66; and p = 0.002, OR = 6.57, 95% CI 4.68–9.23, respectively) (Table 2). HLA-B5 and HLA-B51 were the most significant risk factors associated with BD susceptibility.