This study investigated three novel complete blood count–derived inflammatory biomarkers Systemic Immune-Inflammation Index (SII), Systemic Inflammation Response Index (SIRI), and Pan-Immune-Inflammation Value (PIV) and their relationship with clinical features of Behçet’s Disease (BD). Established markers, including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR), were also analyzed. Seventy HLA-B51–positive BD patients and 114 HLA-B51–negative healthy controls were enrolled. Demographic, clinical, and medication data were collected. Disease activity was assessed using the Behçet’s Disease Current Activity Form (BDCAF). Hematologic indices were calculated and analyzed. Binary logistic regression and ROC analyses (with 95% confidence intervals) were performed to assess diagnostic value using BD diagnosis as the outcome. BD patients had significantly higher NLR (p = 0.003) and SII (p = 0.001) than controls. Both indices were independent predictors of BD diagnosis after adjusting for age, sex, and treatment status. ROC analysis showed moderate diagnostic value for NLR (AUC = 0.674, 95% CI: 0.596–0.753) and SII (AUC = 0.694, 95% CI: 0.615–0.773). No significant associations were found between BDCAF scores and inflammatory indices. NLR and SII are accessible, low-cost markers that may help distinguish BD from healthy individuals. SIRI and PIV require further validation. The study is limited by its cross-sectional design, small sample size, and predominance of inactive BD cases.

Introduction: Grange syndrome (OMIM 602531) is characterized by a constellation of symptoms of hypertension, stenosis, or occlusion of different arteries (including the cerebral, renal, abdominal, and coronary vessels) with a variable occurrence of brachysyndactyly, bone fragility, and congenital heart defects. Learning disabilities were also reported in some cases. Biallelic pathogenic variants in YY1AP1 are associated with the syndrome. Only 14 individuals with this ultra-rare syndrome (12 of them were molecularly confirmed) have hitherto been reported in the literature. Case Presentation: We herein describe a 11/2-year-old additional female case of Grange syndrome with hypertension, patent ductus arteriosus, and brachysyndactyly who was subsequently confirmed to carry a novel homozygous frameshift variant (c.2291del; p.Pro764Leufs*12) in the YY1AP1 gene through whole-exome sequencing. Conclusion: This report extends the allelic spectrum in Grange syndrome and helps provide insight into the potential role of YY1AP1 in the regulation of cellular processes.

Objective: Ankylosing spondylitis (AS) is defined as both an auto-immune and autoinflammatory illness. Human leukocyte antigen B27 (HLA-B27), which is extensively employed in the diagnosis of chronic inflammatory diseases, is the basic laboratory parameter of axial spondylarthritis including AS. Systemic immune-inflammation index (SII) and pan-immune-inflammation value (PIV), obtained by formulating complete blood count parameters, are promising biomarkers that reflect systemic inflammation and local immune response and predict prognosis in diseases. The aim of this study was to investigate the sensitivity and specificity of SII and PIV biomarkers in predicting HLA-B27 positivity in AS patients. Materials and Methods: The research included 68 individuals with HLA-B27 tests (+) (AS group) and 102 patients with HLA-B27 tests (-) (control group). Results: In the AS group, lymphocyte and mean platelet volume values were determined to be lower than in the control group, while other complete blood count parameters, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), were found to be higher. While the SII and PIV values of the AS group determined a positive relation with CRP and ESR levels, they did not show a correlation in the control group. While the sensitivity for PIV in predicting HLA-B27 positivity was found to be 83.80% and the specificity was found to be 84.30%, for SII the sensitivity was found to be 83.80% and the specificity was found to be 86.30%. Conclusion: Easily and rapidly accessible biomarkers SII and PIV can potentially be used to predict HLA-B27 positivity in AS patients.