Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity |
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| Authors: | Elena?Sieni Valentina?Cetica Elena?Mastrodicasa Daniela?Pende Lorenzo?Moretta Gillian?Griffiths Email author" target="_blank">Maurizio?AricòEmail author |
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| Institution: | (1) Dipartimento Oncoematologia Pediatrica e Cure Domiciliari, Azienda Ospedaliero-Universitaria Meyer, Viale Pieraccini, 24, 50139 Florence, Italy;(2) S.C. di Oncoematologia Pediatrica con Trapianto di CSE, Ospedale “S.M. della Misericordia” A.O, Perugia, Italy;(3) A.O.U. San Martino-IST, Istituto Nazionale Ricerca sul Cancro, Genoa, Italy;(4) IRCCS Istituto Giannina Gaslini, Genoa, Italy;(5) Cambridge Institute for Medical Research, Addenbrooke’s Hospital, Cambridge, CB2 0XY, UK; |
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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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