title: Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.
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.
authors: Dipartimento Oncoematologia Pediatrica e Cure Domiciliari, Azienda Ospedaliero-Universitaria Meyer, Viale Pieraccini, 24, 50139 Florence, Italy.
authors: Elena
authors: E
authors: Sieni
authors: Valentina
authors: V
authors: Cetica
authors: Elena
authors: E
authors: Mastrodicasa
authors: Daniela
authors: D
authors: Pende
authors: Lorenzo
authors: L
authors: Moretta
authors: Gillian
authors: G
authors: Griffiths
authors: Maurizio
authors: M
authors: Aricò
mesh_terms: D000818:Animals; D002609:Chediak-Higashi Syndrome / Q000235:genetics / Q000276:immunology; D003594:Cytoplasmic Granules / Q000378:metabolism; D003602:Cytotoxicity, Immunologic / Q000502:physiology*; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics / Q000276:immunology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology; D007694:Killer Cells, Natural / Q000276:immunology*; D016131:Lymphocyte Subsets / Q000276:immunology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D008232:Lymphoproliferative Disorders / Q000235:genetics / Q000276:immunology; D055501:Macrophage Activation Syndrome / Q000235:genetics / Q000276:immunology; D008565:Membrane Proteins / Q000235:genetics / Q000276:immunology; D051379:Mice; D051938:Munc18 Proteins / Q000235:genetics / Q000276:immunology; D055611:Natural Killer T-Cells / Q000276:immunology*; D054353:Perforin; D016116:Piebaldism / Q000235:genetics / Q000276:immunology; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics / Q000276:immunology; D000081207:Primary Immunodeficiency Diseases; D050765:Qa-SNARE Proteins / Q000235:genetics / Q000276:immunology; D013602:T-Lymphocytes, Cytotoxic / Q000276:immunology*
chemical_list: D008565:Membrane Proteins; D051938:Munc18 Proteins; C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D050765:Qa-SNARE Proteins; C541732:STX11 protein, human; C497940:STXBP2 protein, human; C507969:UNC13D protein, human; D054353:Perforin