Familial hemophagocytic lymphohistiocytosis

A model for understanding the human machinery of cellular cytotoxicity

Elena Sieni, Valentina Cetica, Elena Mastrodicasa, Daniela Pende, Lorenzo Moretta, Gillian Griffiths, Maurizio Aricò

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Cytotoxic T lymphocytes, natural killer cells, and NKT cells are effector cells able to kill infected cells. In some inherited human disorders, a defect in selected proteins involved in the cellular cytotoxicity mechanism results in specific clinical syndromes, grouped under the name of familial hemophagocytic lymphohistiocytosis. Recent advances in genetic studies of these patients has allowed the identification of different genetic subsets. Additional genetic immune deficiencies may also induce a similar clinical picture. International cooperation and prospective trials resulted in refining the diagnostic and therapeutic approach to these rare diseases with improved outcome but also with improved knowledge of the mechanisms underlying granule-mediated cellular cytotoxicity in humans.

Original languageEnglish
Pages (from-to)29-40
Number of pages12
JournalCellular and Molecular Life Sciences
Volume69
Issue number1
DOIs
Publication statusPublished - Jan 2012

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Hemophagocytic Lymphohistiocytosis
International Cooperation
Natural Killer T-Cells
Cytotoxic T-Lymphocytes
Rare Diseases
Natural Killer Cells
Names
Proteins
Therapeutics

Keywords

  • Cellular cytotoxicity
  • Hemophagocytosis
  • Mutation analysis
  • Natural killer

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine
  • Pharmacology
  • Cellular and Molecular Neuroscience

Cite this

Familial hemophagocytic lymphohistiocytosis : A model for understanding the human machinery of cellular cytotoxicity. / Sieni, Elena; Cetica, Valentina; Mastrodicasa, Elena; Pende, Daniela; Moretta, Lorenzo; Griffiths, Gillian; Aricò, Maurizio.

In: Cellular and Molecular Life Sciences, Vol. 69, No. 1, 01.2012, p. 29-40.

Research output: Contribution to journalArticle

Sieni, Elena ; Cetica, Valentina ; Mastrodicasa, Elena ; Pende, Daniela ; Moretta, Lorenzo ; Griffiths, Gillian ; Aricò, Maurizio. / Familial hemophagocytic lymphohistiocytosis : A model for understanding the human machinery of cellular cytotoxicity. In: Cellular and Molecular Life Sciences. 2012 ; Vol. 69, No. 1. pp. 29-40.
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