RNA-Seq transcriptome profiling reveals distinct immune response landscapes to identifying inflammation-related diagnostic markers in latent endometrial tuberculosis.

Latent Endometrial Tuberculosis (LETB) is a significant yet under-recognized cause of female infertility, particularly in TB-prevalent regions. Current diagnostic methods for LETB lack specificity, complicating early detection. Through RNA-Seq transcriptome profiling, we aimed to uncover distinct immune response landscapes and identify novel inflammation-related diagnostic markers for LETB. Our study included clinical diagnostics, histological examinations, and transcriptomic analyses comparing differentially expressed genes (DEGs) among control, LETB, and active TB groups. We identified seven candidate genes (IFI30, HCK, SPI1, IL1B, ITGB2, and FCGR2A) uniquely associated with LETB. Bioinformatic analyses revealed these genes' significant roles in immune regulation, including leukocyte activation, cytokine signaling, and myeloid leukocyte-mediated immunity. Gene Set Enrichment Analysis (GSEA) confirmed their involvement in key immune pathways such as cytokine-cytokine receptor interaction and leukocyte transendothelial migration. Validation through qPCR and immunohistochemistry confirmed the differential expression of these biomarkers in LETB tissues. These findings provide new insights into LETB pathogenesis, suggesting potential biomarkers for enhanced early diagnosis and treatment, ultimately aiming to improve reproductive health outcomes for affected women.