Rare Variants of Immune-Related Genes Increase Susceptibility to Autoimmune Encephalitis: An Association Study
Our findings suggest that RDVs in specific immunological pathways, particularly the T cell receptor signaling pathway, may play a role in AE pathogenesis. The significant associations of <i>PDK1</i>, <i>CAT</i>, and <i>MIA</i> with AE highlight potential genetic contributors to the disease. Further functional studies are necessary to validate these associations and explore their biological relevance, potentially paving the way for improved understanding and future therapeutic targets in AE.
Authors
- Chen-Jui Ho (ORCID: https://orcid.org/0000-0001-8800-3932)
- Shiau-Ching Chen
- Chih-Hsiang Lin
- Meng‐Han Tsai (ORCID: https://orcid.org/0000-0002-4570-5712)
- Yanting Lu (ORCID: https://orcid.org/0000-0002-4075-6983)
- Shih‐Ying Chen
- Che-Wei Hsu (ORCID: https://orcid.org/0000-0001-7858-7700)
Institutions
- National Sun Yat-sen University (TW)
- Chang Gung University (TW)
- Kaohsiung Chang Gung Memorial Hospital (TW)
Publication Details
- Journal
- Neurology International
- Published
- 2025-12-08
- DOI
- https://doi.org/10.3390/neurolint17120199
- Primary Topic
- Autoimmune Neurological Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00