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Article

Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects.

Human gene therapy - 1 Jun 2020

Takushi Sarah E, Paik Na Yoon, Fedanov Andrew, Prince Chengyu, Doering Christopher B, Spencer H Trent, Chandrakasan Shanmuganathan

Abstract excerpt

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) is a rare disease caused by mutations to the UNC13D gene and the subsequent absence or decreased activity of the Munc13-4 protein. Munc13-4 is essential for the exocytosis of perforin and granzyme containing granules from cytotoxic cells. Without it, these cells are able to recognize an immunological insult but are unable to execute their cytotoxic...

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Identifiers

PMID: 32253931
DOI: 10.1089/hum.2019.329
PMCID: PMC7310202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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