Authors :
Presenting Author: Leechung Chang, PhD – Yonsei University College of Medicine
Joon Soo Lee, MD-PhD – Severance Children's Hospital, Yonsei University College of Medicine
Hoon-Chul Kang, MD-PhD – Severance Children's Hospital, Yonsei University College of Medicine
Ho-Keun Kwon, MD-PhD – Yonsei University College of Medicine
Se Hee Kim, MD-PhD – Severance Children's Hospital, Yonsei University College of Medicine
Rationale:
Infantile epileptic spasms syndrome (IESS), often show resistance to conventional anti-seizure drugs and progress to Lennox-Gastaut syndrome (LGS). ACTH or steroid is used, but the underlying mechanisms remain unclear. This study aimed to investigate the immunologic signature of IESS, and LGS to identify potential therapeutic targets.
Methods:
Patients with IESS, LGS, and age- matched healthy controls (HCs) were included. Peripheral blood mononuclear cells were collected. T cell subsets, phenotypic and functional characteristics, cytokine expression were investigated using multiparameter flow cytometry.
Results:
A total of 25 patients with IESS (14 males and 11 females, 1.27 ± 0.79 years) were compared with 9 HCs below 3 years old (5 males and 4 females, 1.15 ± 1.13 years). Nine patients with LGS (5 males and 4 females, 9.00 ± 4.94 years) were compared with 45 HCs over 3 years old (28 males and 17 females, 7.16 ± 2.17 years). In IESS, a reduction in naïve CD4+ T cells and CD4+ T cells producing TNFα was observed. Levels of activated CD8+ T cells producing TNFα correlating positively with daily seizure frequency, reflected disease course. In LGS, a significant increase in activated CD8+ T cells, central memory CD4+ T cells, and a dysfunction of regulatory T cells were observed. Conclusions:
This study identifies immune dysfunction in IESS and LGS, with specific T cell changes correlating with disease severity. The findings suggest potential treatment targets beyond conventional anti-seizure drugs. Funding: none