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Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity

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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.

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Authors and Affiliations

  1. Dipartimento Oncoematologia Pediatrica e Cure Domiciliari, Azienda Ospedaliero-Universitaria Meyer, Viale Pieraccini, 24, 50139, Florence, Italy

    Elena Sieni, Valentina Cetica & Maurizio Aricò

  2. S.C. di Oncoematologia Pediatrica con Trapianto di CSE, Ospedale “S.M. della Misericordia” A.O, Perugia, Italy

    Elena Mastrodicasa

  3. A.O.U. San Martino-IST, Istituto Nazionale Ricerca sul Cancro, Genoa, Italy

    Daniela Pende

  4. IRCCS Istituto Giannina Gaslini, Genoa, Italy

    Lorenzo Moretta

  5. Cambridge Institute for Medical Research, Addenbrooke’s Hospital, Cambridge, CB2 0XY, UK

    Gillian Griffiths

Authors
  1. Elena Sieni
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  2. Valentina Cetica
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  3. Elena Mastrodicasa
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  4. Daniela Pende
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  5. Lorenzo Moretta
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  6. Gillian Griffiths
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  7. Maurizio Aricò
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Corresponding author

Correspondence to Maurizio Aricò.

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Sieni, E., Cetica, V., Mastrodicasa, E. et al. Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity. Cell. Mol. Life Sci. 69, 29–40 (2012). https://doi.org/10.1007/s00018-011-0835-y

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  • DOI: https://doi.org/10.1007/s00018-011-0835-y

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