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GTR Home > Conditions/Phenotypes > Familial hemophagocytic lymphohistiocytosis 3

Familial hemophagocytic lymphohistiocytosis 3

Summary

Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (170280)-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see 267700. [from OMIM]

Available tests

47 tests are in the database for this condition.

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Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FHL3, HLH3, HPLH3, Munc13-4, UNC13D
    Summary: unc-13 homolog D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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