鉴定慢性炎症性脱髓鞘多发性神经病患者 FBXO38 基因中的罕见变异。

IF 2.9 4区医学 Q3 IMMUNOLOGY

Journal of neuroimmunology Pub Date : 2024-05-28 DOI:10.1016/j.jneuroim.2024.578381

Antoine Pegat , Jean-Baptiste Chanson , Pierre Lozeron , Bastien Joubert , Alexandre Bani-Sadr , Isabelle Quadrio , Léo Vidoni , Philippe Latour

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引用次数: 0

摘要

慢性炎症性脱髓鞘多发性神经病（CIDP）是一种罕见的免疫介导型神经病，目前尚无明确的风险因素。本研究在三例家族性 CIDP 病例中发现了 FBXO38 基因的罕见变异体，其中三代人对皮质类固醇均有反应，且具有不完全的渗透性；在第四例无亲属关系的病例中发现了 FBXO38 基因的罕见变异体，该病例伴有弥漫性神经肥大。FBXO38 可能通过 PD1 降解参与了 CD8 T 细胞介导的免疫调节，而 CD8 T 细胞在 CIDP 病理生理学中起着重要作用。考虑到这些发现，应将 FBXO38 作为潜在的遗传因素，在更大规模的 CIDP 患者群中进行研究。

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Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare immune-mediated neuropathy for which there is no clearly identified risk factor. The present study identified rare variants in the FBXO38 gene in three familial cases of CIDP with response to corticosteroids in three generations with incomplete penetrance, and in an unrelated fourth case with diffuse nerve hypertrophy. FBXO38 may be involved in the regulation of the immunity mediated by CD8 T cells, which have an important role in CIDP pathophysiology, through PD1 degradation. Considering these findings, FBXO38 should be investigated as a potential genetic factor in larger cohorts of patients with CIDP.

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来源期刊

Journal of neuroimmunology 医学-免疫学

CiteScore

6.10

自引率

3.00%

发文量

154

审稿时长

37 days

期刊介绍： The Journal of Neuroimmunology affords a forum for the publication of works applying immunologic methodology to the furtherance of the neurological sciences. Studies on all branches of the neurosciences, particularly fundamental and applied neurobiology, neurology, neuropathology, neurochemistry, neurovirology, neuroendocrinology, neuromuscular research, neuropharmacology and psychology, which involve either immunologic methodology (e.g. immunocytochemistry) or fundamental immunology (e.g. antibody and lymphocyte assays), are considered for publication.