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

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

Soo Yeun Sim  1 , In-Cheol Baek  2 , Won Kyoung Cho  3 , Min Ho Jung  4 , Tai-Gyu Kim  5 , Byung-Kyu Suh  1
Affiliations
Comparative Study

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

Soo Yeun Sim et al. Cells. .

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.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
UMAP presentation of single-cell RNA sequencing of PBMCs. Each dot represents one of the CD4(+) T cells; (A) UMAP plot colored by study subjects: cells are represented based on three different groups indicated in red, green, and blue, respectively; (B) UMAP plot of individual study subjects: CD4(+) T cells of a healthy female (HF) are represented in red; CD4(+) T cells of a patient with Graves’ disease (GD) are represented in blue; CD4(+) T cells of a patient with Turner syndrome (TS) are represented in green.
Figure 2
Figure 2
The heatmap of thirteen shared down-expressed genes in a patient with TS compared with both an HF and a patient with GD. Values are presented on a Log2 scale.
Figure 3
Figure 3
The heatmap of thirty shared up-expressed genes in a patient with TS compared with both an HF and a patient with GD. Values are presented on a Log2 scale.
Figure 4
Figure 4
Thirteen down-expressed genes in a patient with TS compared with an HF.
Figure 5
Figure 5
Thirty up-expressed genes in a patient with TS compared with an HF.
Figure 6
Figure 6
Thirteen down-expressed genes in a patient with TS compared with a female patient with GD.
Figure 7
Figure 7
Thirty up-expressed genes in a patient with TS compared with a female patient with GD.
See this image and copyright information in PMC

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