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Article

Case Report: Munc13-4 deficiency presenting with autoimmune neuropathy years before FLH: implications for early genetic screening and HSCT timing.

Frontiers in immunology - 1 Jan 2026

Wei Xiaojing, Hu Jianian, Bao Liye, Sun Hui, Bai Na, Yu Xuefan, Lin Jie

Abstract excerpt

Background: The UNC13D gene encodes Munc13-4, a critical regulator of cytotoxic granule exocytosis in lymphocytes and the protein responsible for familial hemophagocytic lymphohistiocytosis (FHL). As an essential mediator of perforin release from cytotoxic T and NK cells, Munc13-4 ensures immune surveillance by facilitating granule-plasma membrane fusion. Defects in this pathway, termed "perforinopathy" manifest...

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Share to Autoimmune Diseases of the Nervous System
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42548572
DOI: 10.3389/fimmu.2026.1890404
PMCID: PMC13429461

Genes

UNC13D

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Case Report: Munc13-4 deficiency presenting with autoimmune neuropathy years before FLH: implications for early genetic screening and HSCT timing.PMID 42548572Read ↗

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