HLA-B*51 allelic and carrier frequency in Kazakhstan: insights into Behçet’s disease prevalence in Central Asia

Poddighe, Dimitri; Turganbekova, Aida; Mukusheva, Zaure; Abdirakhmanova, Altynay; Assylbekova, Maikesh; Abdrakhmanova, Saniya

doi:10.1007/s11739-020-02369-1

Cited by 4 publications

(5 citation statements)

References 18 publications

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“…Although BS is classically known to be more prevalent along the ancient Silk Route, most of the previous epidemiologic studies had come from the beginning and end of this route with little data on the prevalence in countries along the middle of the Silk Route. This year there was one study from Mongolia and another from Kazakhstan (3,4). The study from Mongolia provided an estimated prevalence of 2.4 per 100,000 population, acknowledging that milder patients may be missing from this study which was conducted in secondary and tertiary centres (3).…”

Section: Epidemiologymentioning

confidence: 99%

“…Interestingly 55.4% of the patients had ulcers in their nasal mucosa, which was considered to be associated with extreme temperature conditions and the dust in Mongolia. The study from Kazakhstan was not a formal prevalence study, but an extrapolation based on the HLA B51 positivity in the general population (4). They found an allelic HLA B51 frequency of 8.14% and carrier rate of 15.28% and speculated that the prevalence of BS in Kazakhstan would be at least 10-15 per 100,000 population.…”

Section: Epidemiologymentioning

confidence: 99%

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One year in review 2021: Behçet's syndrome

Hatemi

Seyahi

Fresko

et al. 2021

Clinical and Experimental Rheumatology

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This review aims to provide a critical digest of the recent studies that enhance our understanding of Behçet's syndrome by evaluating time trends, differences in disease course between men and women, and between patients with an early and late disease onset, progress in disease assessment, novel findings on immunopathogenesis and genetics, clinical features and differential diagnosis of eye, vascular, nervous system and gastrointestinal system involvement, and new data on treatment modalities including tofacitinib, and apremilast, as well as surgical interventions.

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Section: Epidemiologymentioning

confidence: 99%

Section: Epidemiologymentioning

confidence: 99%

One year in review 2021: Behçet's syndrome

Hatemi

Seyahi

Fresko

et al. 2021

Clinical and Experimental Rheumatology

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“…The diagnosis of BD was made using the International Criteria for BD in 2013 6 and the Pediatric BD classification criteria in 2016. 7 The patient was first given methylprednisolone tablets (equivalent to 1 mg/kg/day prednisone), torasemide tablets, and pulse cyclophosphamide (800 mg/m 2 ). Given the severity of the aortic valve damage, aggressive treatment was required to create the conditions for surgery.…”

Section: Case Presentationmentioning

confidence: 99%

“… 1 The disease prevalence varies (1–370/100,000 people) according to geographical factors as well: the highest value is observed in Turkey and, more broadly, in countries crossed by the so-called Silk Road, including the Middle East and far-east Asia. 2 Pediatric BD accounts for approximately 1.6% to 7.7% of all BD cases. 3 , 4 The highly heterogeneous clinical manifestations of pediatric BD and the lack of specific biomarkers make early diagnosis more difficult.…”

Section: Introductionmentioning

confidence: 99%

Pediatric Behçet's disease with cardiac valvular lesions: A case-based review

2023

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Due to the insidious nature of pediatric cardiac Behçet's disease (BD), misdiagnosis or missed diagnosis occurred frequently. We described a female pediatric patient with BD with cardiac valvular involvement diagnosed at the age of 4 years with clinical symptoms, including aphthous ulcers, fever, perianal ulcers, and erythema nodosum, as well as significantly elevated inflammatory markers. Echocardiography revealed that previously absent aortic valve lesions developed later and gradually worsened. After being diagnosed with BD with cardiovascular involvement, the patient was treated with glucocorticoids, immunosuppressants, biologics, diuretics, and aortic valvuloplasty. At the time of the follow up, the patient was stable. A review of 13 publications was conducted, including 14 cases of cardiac involvement in pediatric BD.

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“…HLA typing may also greatly assist in raising awareness of the possible underdiagnosis of particular disorders, especially in resource-constrained developing countries. This is illustrated by two studies from Kazakhstan, where disease-associated HLA genotypes were found to be much more common in the population than their associated disorders, probably highlighting some impairment to diagnosis [ 8 , 9 ]. Therefore, we can use HLA data to assess potentially underscored diseases in our population.…”

Section: Introductionmentioning

confidence: 99%

HLA major allele group frequencies in a diverse population of the Free State Province, South Africa

Rensburg

Kock

Bester

et al. 2021

Heliyon

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Background: Human Leucocyte Antigens (HLA) play a vital role in disease pathogenesis and transplant rejection. HLA-typing is a useful tool in predicting disease progression and to identify potential organ donors. Due to human migration and known ethnic variation, frequent targeted HLA sequencing of specific populations is crucial to increase their representation in global reference panels. Materials and methods: We performed a retrospective file audit of all HLA-typings done in our setting from 2005-2019. We discuss data for the major HLA-A, HLA-B, HLA-C, and HLA-DRB1 allele groups. Results: Overall, the most common allele groups were HLA-A*02, HLA-B*15, HLA-C*07 and HLA-DRB1*03. For the African descent group, the most common alleles were HLA-A*30, HLA-B*15, HLA-C*07 and HLA-DRB1*03. For the European descent group, the most common alleles were HLA-A*02, HLA-B*07, HLA-C*07 and HLA-DRB1*15. For the mixed ancestry group, the most common allele groups were HLA-A*02, HLA-B*15, HLA-C*02 and HLA-DRB1*13. HLA-B*44 was identified as the most common allele group in patients with renal failure. Discussion and conclusion: The significant variation within the HLA frequencies between the different ethnic groups highlights the value of population-specific HLA-typing. Furthermore, the identification of HLA-B*44 as a prominent HLA in our renal failure population warrants in-depth investigation of this group.

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HLA-B*51 allelic and carrier frequency in Kazakhstan: insights into Behçet’s disease prevalence in Central Asia

Cited by 4 publications

References 18 publications

One year in review 2021: Behçet's syndrome

One year in review 2021: Behçet's syndrome

Pediatric Behçet's disease with cardiac valvular lesions: A case-based review

HLA major allele group frequencies in a diverse population of the Free State Province, South Africa

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