ArticleOrphanet journal of rare diseases2025
Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Article
- Behçet's spectrum disorders: genetic and immunological insights into an emerging disease concept.World journal of pediatrics : WJP · 2026Review
- Correlation analysis of cytokine levels and peripheral blood T lymphocyte subsets in systemic vascular inflammatory disease.Journal of medical biochemistry · 2026Article
- Behçet's syndrome-like features revealing myelodysplastic syndrome withFrontiers in immunology · 2026Article
- Disease-specific biomarker value of C-reactive protein and its composite indices in autoinflammatory diseases: an integrated study of multi-modal omics and population cohorts.Frontiers in immunology · 2026Article
- Polyarteritis nodosa presenting with pancreatic-artery rupture and co-existing MEFV and ADA2 mutation: clinicopathological and genomic insights from a case report.Virchows Archiv : an international journal of pathology · 2025Article
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8 authors.
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Abstract
purposeChromosomal abnormalities, such as Trisomy 8 (T8), and genetic mutations may contribute to the unique clinical phenotype of Behçet's Disease (BD). This study aims to characterize the clinical and genetic features of patients presenting with BD-like symptoms associated with T8 (T8-BD).
methodsWe analyzed a cohort of 8 patients with T8-BD and associated genetic variants, including 1 newly identified case from our center and 7 previously reported in the literature. Genetic sequencing and karyotyping analyses were conducted, with Sanger sequencing used to confirm variants. We assessed clinical phenotypes, genetic backgrounds, treatments, and clinical outcomes.
resultsThis study comprised predominantly female (87.5%) and East Asian (87.5%) patients, spanning pediatric to elderly populations, with a high comorbidity prevalence (87.5%), including autoimmune lymphoproliferative syndrome (ALPS), myelodysplastic syndrome (MDS), atypical familial Mediterranean fever (FMF), primary myelofibrosis (PM), polycythemia vera (PV), and Townes-Brocks syndrome (TBS). Uniform presentations included oral aphthosis (100%), intestinal lesions (100%), with most cases exhibiting fever (85.7%), anemia (85.7%), and elevated C-reactive protein (CRP) levels (85.7%). Genetic variants were identified in NRAS, JAK2, MEFV, PTPN11, and SALL1, comprising 5 missense variants and 1 nonsense mutation, including a de novo NRAS mutation newly reported in a pediatric patient. Treatment involved glucocorticoids (GC) combined with immunosuppressants (33.3%), a combination of GC, immunosuppressants, and biologics (50%), and anti-oral aphthosis medications (16.7%), with most patients achieving remission, except for one fatal outcome.
conclusionsPatients with T8-BD and genetic mutations exhibit distinct clinical features. Greater clinical awareness of autoinflammatory syndromes, combined with genetic and chromosomal analysis, is recommended in patients with BD-like symptoms who do not fully meet BD diagnostic criteria, especially those presenting with oral ulcers and systemic inflammation. This approach may enhance diagnostic precision and inform tailored treatment strategies.
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