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

Frontiers in immunology - 1 Jan 2023

Hu Lin-Yan, Wan Lin, Wang Qiu-Hong, Shi Xiu-Yu, Meng Yan, Yang Xiao-Fan, Yang Guang, Zou Li-Ping

Abstract excerpt

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-year-old girl with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), followed by a rapidly...

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Identifiers

PMID: 38149249
DOI: 10.3389/fimmu.2023.1306338
PMCID: PMC10750348

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