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.

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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
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article

Rare Variants of Immune-Related Genes Increase Susceptibility to Autoimmune Encephalitis: An Association Study

Chen-Jui Ho, Shiau-Ching Chen, Chih-Hsiang Lin, Meng‐Han Tsai et al.
Neurology International
Autoimmune Neurological Disorders and Treatments
article

Rare Variants of Immune-Related Genes Increase Susceptibility to Autoimmune Encephalitis: An Association Study

Chen-Jui Ho, Shiau-Ching Chen, Chih-Hsiang Lin, Meng‐Han Tsai, Yanting Lu, Shih‐Ying Chen, Che-Wei Hsu
article en

Abstract

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.

Neurology InternationalVol. 17(12)
National Sun Yat-sen University (TW), Chang Gung University (TW), Kaohsiung Chang Gung Memorial Hospital (TW)
Openalex Percentile: Top 46%
Autoimmune Neurological Disorders and Treatments
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