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Dysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression.
J Innate Immun
September 2024
Laboratory of Pediatric Immunology, Center for Investigation in Pediatrics, University of Campinas Medical School (FCM-UNICAMP), Campinas, Brazil.
Article Synopsis
- The study explores how different BTK mutations in X-linked agammaglobulinemia (XLA) impact TLR signaling pathways, potentially affecting the severity of the disease.
- Researchers quantified gene expression related to TLR pathways in XLA patients with different BTK mutations compared to healthy controls, finding varying levels of regulation among key genes.
- The results suggest that abnormal expression levels of certain TLR genes could make XLA patients more prone to infections or contribute to chronic inflammatory diseases, highlighting the inflammatory aspect present even with treatment.