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Familial hemophagocytic lymphohistiocytosis 3

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Description

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.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

370

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Genes

External Links

  • OMIM

    608898

  • Orphanet
  • HPO
  • Medgen

    C1837174

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