Immune Gene Expression Profiling in Individuals with Turner Syndrome, Graves' Disease, and a Healthy Female by Single-Cell RNA Sequencing: A Comparative Study

Cells. 2025 Jan 10;14(2):93. doi: 10.3390/cells14020093.

Abstract

Turner syndrome (TS) can be determined by karyotype analysis, marked by the loss of one X chromosome in females. However, the genes involved in autoimmunity in TS patients remain unclear. In this study, we aimed to analyze differences in immune gene expression between a patient with TS, a healthy female, and a female patient with Graves' disease using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4(+) T cells. We identified 43 differentially expressed genes in the TS patient compared with the healthy female and the female patient with Graves' disease. Many of these genes have previously been suggested to play a role in immune system regulation. This study provides valuable insights into the differences in immune-related gene expression between TS patients, healthy individuals, and those with autoimmune diseases.

Keywords: Turner syndrome; X chromosome inactivation; autoimmunity; gene expression; single-cell RNA analysis.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • CD4-Positive T-Lymphocytes / immunology
  • CD4-Positive T-Lymphocytes / metabolism
  • Case-Control Studies
  • Female
  • Gene Expression Profiling*
  • Graves Disease* / genetics
  • Graves Disease* / immunology
  • Humans
  • Sequence Analysis, RNA*
  • Single-Cell Analysis*
  • Transcriptome / genetics
  • Turner Syndrome* / genetics
  • Turner Syndrome* / immunology