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	Elena Sieni, Valentina Cetica, Elena Mastrodicasa, Daniela Pende, Lorenzo Moretta, Gillian Griffiths, Maurizio Aricò
Journal	Cellular and molecular life sciences : CMLS (Cell Mol Life Sci) Vol. 69 Issue 1 Pg. 29-40 (Jan 2012) ISSN: 1420-9071 [Electronic] Switzerland
PMID	21990010 (Publication Type: Journal Article, Review)
Chemical References	Membrane Proteins Munc18 Proteins PRF1 protein, human Pore Forming Cytotoxic Proteins Qa-SNARE Proteins STX11 protein, human STXBP2 protein, human UNC13D protein, human Perforin
Topics	Animals Chediak-Higashi Syndrome (genetics, immunology) Cytoplasmic Granules (metabolism) Cytotoxicity, Immunologic (physiology) Hermanski-Pudlak Syndrome (genetics, immunology) Humans Immunologic Deficiency Syndromes (genetics, immunology) Killer Cells, Natural (immunology) Lymphocyte Subsets (immunology) Lymphohistiocytosis, Hemophagocytic (diagnosis, genetics, immunology, therapy) Lymphoproliferative Disorders (genetics, immunology) Macrophage Activation Syndrome (genetics, immunology) Membrane Proteins (genetics, immunology) Mice Munc18 Proteins (genetics, immunology) Natural Killer T-Cells (immunology) Perforin Piebaldism (genetics, immunology) Pore Forming Cytotoxic Proteins (genetics, immunology) Primary Immunodeficiency Diseases Qa-SNARE Proteins (genetics, immunology) T-Lymphocytes, Cytotoxic (immunology)

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