TL;DR
The findings underscore the immunogenetic heterogeneity of autoinflammatory diseases and substantiate the diagnostic value of NGS-based profiling in deciphering complex genotype–phenotype associations.
This study evaluates a long-term pediatric cohort to assess clinical spectrum, therapeutic outcomes, and molecular findings for XLA, an inborn error of immunity caused by BTK gene mutations characterized by hypogammaglobulinemia and recurrent infections.
Background/Objectives: RELA encodes the p65 subunit of NF-κB and plays a critical role in immune regulation, epithelial protection, and anti-apoptotic signaling. Pathogenic RELA variants cause monogenic immune dysregulation with heterogeneous clinical manifestations. However, genotype–phenotype relationships and optima...
The PIRD-GCEP framework provides validated gene-disease classifications and identifies three distinct phenotypic clusters, facilitating improved diagnosis while revealing genes requiring further investigation to confirm their role in immune regulatory disorders.
Serum CRP levels showed a disease specific distribution across AIDs, with the highest levels in hyperinflammatory conditions such as AOSD and MAS, suggesting their potential as disease-specific biomarkers.
While smoking cessation must likely be absolute to reverse pathogenic trafficking signals (such as GPR15 upregulation), the linear effect of BMI suggests that incremental weight loss confers proportional immunologic benefits, which strongly support the integration of lifestyle interventions as a core component of early...
Anti-cytokine autoantibodies are increasingly recognized as modulators of immune function and determinants of disease risk, yet their genetic basis and population-level impact remain unclear. Here we perform genome-wide association studies of autoantibodies against IL-1α, IL-6, IL-10, IFN-α, IFN-β, IFN-γ and GM-CSF in...
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