Article Dans Une Revue Journal of Neuroimmunology Année : 2024

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

Résumé

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.
Fichier principal
Vignette du fichier
PIIS0165572824000997.pdf (736.39 Ko) Télécharger le fichier
Origine Fichiers éditeurs autorisés sur une archive ouverte
licence

Dates et versions

hal-04801796 , version 1 (27-01-2025)

Licence

Identifiants

Citer

Antoine Pegat, Jean-Baptiste Chanson, Pierre Lozeron, Bastien Joubert, Alexandre Bani-Sadr, et al.. Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy. Journal of Neuroimmunology, 2024, 392, pp.578381. ⟨10.1016/j.jneuroim.2024.578381⟩. ⟨hal-04801796⟩
6 Consultations
0 Téléchargements

Altmetric

Partager

More