Evidence map›Paper›PMID 39199016›Full record

ArticleAnnals of clinical and translational neurology2024

Clonal hematopoiesis in LGI1-antibody encephalitis.

Soo Jean Shin, Yoonhyuk Jang, Soo Hyun Ahn, Su Yee Mon, Ji Hye You, Hong Yul An, Choong Hyun Sun, Youngil Koh, Kon Chu, Sang Kun Lee and 1 more

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Article in Annals of clinical and translational neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Soo Jean Shin *Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea.ORCID 0000-0002-1432-6824
Yoonhyuk Jang *Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea.ORCID 0009-0004-5991-7822
Soo Hyun Ahn *Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea.ORCID 0009-0004-0434-9223
Su Yee MonDepartment of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea.
Ji Hye YouDepartment of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea.
Hong Yul AnNOBO Medicine Inc., Seoul, 04799, South Korea.
Choong Hyun SunNOBO Medicine Inc., Seoul, 04799, South Korea.
Youngil KohNOBO Medicine Inc., Seoul, 04799, South Korea.
Kon ChuDepartment of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea.
Sang Kun LeeDepartment of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea.ORCID 0000-0003-1908-0699
Soon-Tae LeeDepartment of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, 03080, South Korea.ORCID 0000-0003-4767-7564

Funding

Korea Health Industry Development Institute RS-2023-00266044National Research Foundation of Korea (NRF) 2022R1A2B5B0100133113Seoul National University Hospital
6 · The paper itself

Abstract

objectiveLeucine-rich glioma-inactivated 1 (LGI1)-antibody encephalitis (LGI1e), the major form of autoimmune encephalitis (AE) presented with memory loss and faciobrachial dystonic seizure, commonly develops in aged population. Hematologic aging is often accompanied by clonal hematopoiesis (CH), a phenomenon in which specific mutations accumulate, potentially leading to autoimmune disorders or malignancies. Our research aimed to investigate the connection between clonal hematopoiesis of indeterminate potential (CHIP) and LGI1e.

methodsPeripheral blood samples from consecutive LGI1e patients were collected and analyzed for 24 clonal CHIP using targeted gene sequencing. The results were compared to a control dataset from an ethnically matched health care cohort. Patient characteristics were analyzed based on their CHIP status.

resultsA total of 52 LGI1e patients were enrolled for this study. Among them, three patients (5.8%) exhibited functional mutations in the ASXL1 gene, one of the CHIP-associated genes analyzed by targeted sequencing. This frequency was significantly higher compared to that of the control cohort (1%, p = 0.015). Nevertheless, the patients showed no difference in the clinical characteristics, laboratory results, and immunotherapy outcomes.

interpretationLGI1e showed high frequency of ASXL1 functional mutation in the CHIP analysis, which may contribute to the underlying pathogenesis. Further research is needed to determine its direct role in the development of autoimmunity and disease progression.

Indexed as

AutoantibodiesClonal HematopoiesisEncephalitisIntracellular Signaling Peptides and ProteinsAdultAgedAged, 80 and overFemaleHumansMaleMiddle AgedMutationRepressor ProteinsASXL1 protein, humanAutoantibodiesIntracellular Signaling Peptides and ProteinsLGI1 protein, humanRepressor Proteins

Identifiers

PMID39199016
PMCPMC11514903

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