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Abstract Details

Investigating Immunological Profiles of Thymus in Myasthenia Gravis by scRNA-seq
Neuromuscular and Clinical Neurophysiology (EMG)
P10 - Poster Session 10 (11:45 AM-12:45 PM)
11-020
Thymic hyperplasia has been associated with early-onset AChR-myasthenia gravis (MG). However, thymus complexities hinder comprehensive analysis by traditional techniques, limiting our understanding of thymic immunological profiles in MG.

To characterize the immunological signatures of thymus in patients with AChR-MG.

We collected matched thymus samples and peripheral blood monocytes (PBMCs) from two patients diagnosed with early-onset AchR-MG. To identify and characterize immune cell subsets within the thymus and PBMCs, we applied high-resolution single-cell RNA sequencing (scRNA-seq) technology. After removing the dead cells and following sequencing, we performed bioinformatic analysis. Public available dataset of age and sex-matched healthy controls (HC) were also included.

A total of 39,943 single cells derived from thymocytes and PBMCs passed QC. Twenty-four immune cell clusters were identified. Comparing thymocytes, we observed a significant decrease in double positive T cells, along with an increase in CD4 T cells, B cells, NK and DCs in MG patients than HC. In PBMCs, we observed a significant increase in double positive T cells and CD4 T cells, while NK cells, DCs and monocytes were decreased in MG patients. Overall, our findings indicate a shift of double positive T cells from thymus to periphery, and an increase of B cells, NK cells and DCs in the thymus of MG patients.

Our study highlights the presence of an immune cell imbalance between the thymus and peripheral circulation in MG patients. Further investigations are necessary to confirm the underlying mechanisms and elucidate the role of these imbalanced immune cells in the pathogenesis of MG.

Authors/Disclosures
Yingkai Li, MD, PhD (Duke University)
PRESENTER
Dr. Li has nothing to disclose.
No disclosure on file
No disclosure on file
No disclosure on file
Vern C. Juel, MD, FAAN (Duke University Medical Center) Dr. Juel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Immunovant. Dr. Juel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Juel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Accordant Health Services. Dr. Juel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Janssen. The institution of Dr. Juel has received research support from argenx. The institution of Dr. Juel has received research support from Alexion. The institution of Dr. Juel has received research support from Janssen. The institution of Dr. Juel has received research support from NIH Rare Diseases Network.