Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation

Perforin is essentially involved in the granule-dependent killing activities of cytotoxic T lymphocytes and NK cells. Monoallelic PRF1 mutation increases the risk of autoimmune diseases, and biallelic PRF1 mutation causes familial hemophagocytic lymphohistiocytosis-2. Here, we report a case of a 12-...

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Bibliographic Details
Main Authors: Lin-Yan Hu, Lin Wan, Qiu-Hong Wang, Xiu-Yu Shi, Yan Meng, Xiao-Fan Yang, Guang Yang, Li-Ping Zou
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Immunology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1306338/full