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Related Experiment Video

Updated: Jul 1, 2026

Flash NanoPrecipitation for the Encapsulation of Hydrophobic and Hydrophilic Compounds in Polymeric Nanoparticles

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Published on: January 7, 2019

Getting secretory granules ready for prime time.

Bin Zhang¹, David Ginsburg

¹Howard Hughes Medical Institute and Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.

|November 19, 2003

Summary

Mutations in Munc13-4 cause familial hemophagocytic lymphohistiocytosis, a rare disease. This protein is crucial for cytotoxic granules, essential for lymphocyte-mediated cell killing.

Area of Science:

Immunology
Cell Biology
Human Genetics

Background:

Lymphocyte cytotoxicity is vital for immune responses.
Rare human diseases provide insights into cellular processes.
The secretory pathway is critical for cytotoxic granule release.

Purpose of the Study:

To identify the genetic cause of familial hemophagocytic lymphohistiocytosis.
To elucidate the role of Munc13-4 in lymphocyte cytotoxicity.

Main Methods:

Genetic analysis of patients with familial hemophagocytic lymphohistiocytosis.
Functional studies of Munc13-4 in immune cells.

Main Results:

Mutations in the Munc13-4 gene were identified as causative for familial hemophagocytic lymphohistiocytosis.

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Last Updated: Jul 1, 2026

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Munc13-4 plays a key role in the priming of cytotoxic granules.

Conclusions:

Munc13-4 is essential for the secretory pathway of lymphocyte cytotoxicity.
Understanding Munc13-4 function may lead to new therapeutic strategies for related disorders.