Dysregulation of Toll-Like Receptor Signaling-Associated Gene Expression in X-Linked Agammaglobulinemia: Implications for Correlations Genotype-Phenotype and Disease Expression

• Main Authors: Marcelo Teocchi (Author), Thaís de Andrade Eugênio (Author), Lia Furlaneto Marega (Author), Isabella Quinti (Author), Maria Marluce dos Santos Vilela (Author)
• Format: Book
• Published: Karger Publishers, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: In X-linked agammaglobulinemia (XLA), the diversity of BTK variants complicates the study of genotype-phenotype correlations. Since BTK negatively regulates toll-like receptors (TLRs), we investigated if distinct BTK mutation types selectively modulate TLR pathways, affecting disease e...