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Blood, ISSN 0006-4971, 02/2015, Volume 125, Issue 9, pp. 1427 - 1434
The impairment of cytotoxic activity of lymphocytes disturbs immune surveillance and leads to the development of hemophagocytic lymphohistiocytic syndrome... 
ACTIVATION | DISRUPTION | GENE | SUSCEPTIBILITY | FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | PERFORIN | MUTATIONS | IDENTIFICATION | HEMATOLOGY | CD8(+) T-CELLS | EXHAUSTION | Lymphocytic choriomeningitis virus - immunology | Spleen - virology | T-Lymphocytes, Cytotoxic - immunology | Lymphocytic Choriomeningitis - virology | Lymphohistiocytosis, Hemophagocytic - pathology | Cell Proliferation | Spleen - immunology | Killer Cells, Natural - virology | Lymphocytic Choriomeningitis - pathology | Interferon-gamma - secretion | Mice, Inbred C57BL | Cells, Cultured | Killer Cells, Natural - pathology | Lymphocytic Choriomeningitis - immunology | Viral Load | Lymphohistiocytosis, Hemophagocytic - virology | Animals | Killer Cells, Natural - immunology | Mice | Cytotoxicity, Immunologic - immunology | Spleen - pathology | Lymphohistiocytosis, Hemophagocytic - immunology | Killer Cells, Natural/immunology | Lymphocytic Choriomeningitis/pathology | Lymphohistiocytosis, Hemophagocytic/virology | Lymphocytic Choriomeningitis/immunology | Innate immunity | Lymphohistiocytosis, Hemophagocytic/immunology | Killer Cells, Natural/pathology | Spleen/pathology | Life Sciences | Immunology | Lymphocytic Choriomeningitis/virology | Spleen/virology | Lymphocytic choriomeningitis virus/immunology | Spleen/immunology | Killer Cells, Natural/virology | Lymphohistiocytosis, Hemophagocytic/pathology | Cytotoxicity, Immunologic/immunology | T-Lymphocytes, Cytotoxic/immunology | Interferon-gamma/secretion
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 5, pp. 1310 - 1318.e1
Background Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and... 
Allergy and Immunology | Griscelli syndrome type 2 | melanophilin | Hemophagocytic lymphohistiocytosis | familial hemophagocytic lymphohistiocytosis | natural killer cells | cytotoxic T lymphocyte | MYOSIN VA | PERFORIN | IMMUNOLOGY | PLASMA-MEMBRANE | MELANOSOME TRANSPORT | LYSOSOMES | ALLERGY | STEM-CELL TRANSPLANTATION | GRANULE SECRETION | EXPRESSION | LYMPHOCYTES | Perforin - genetics | Humans | Child, Preschool | Infant | Male | rab GTP-Binding Proteins - genetics | Case-Control Studies | Skin Pigmentation - genetics | DNA Mutational Analysis | Female | Membrane Proteins - metabolism | Lymphohistiocytosis, Hemophagocytic - genetics | Child | rab GTP-Binding Proteins - metabolism | Cell Line | Gene Expression | Cell Degranulation | Lymphohistiocytosis, Hemophagocytic - diagnosis | Models, Molecular | Genetic Markers | Phenotype | Membrane Proteins - chemistry | Lymphohistiocytosis, Hemophagocytic - metabolism | Adolescent | Albinism - genetics | Protein Binding | rab27 GTP-Binding Proteins | Protein Conformation | rab GTP-Binding Proteins - chemistry | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Cohort Studies | Cytotoxicity, Immunologic | Transplantation | Hematopoietic stem cells | Proteins | Stem cells | Amino acids | Cytotoxicity | Patients | Immune system | Immune Deficiencies, Infection, and Systemic Immune Disorders | Slp2a, Synaptotagmin-like protein 2a | GRA, Granule release assay | GFP, Green fluorescent protein | GTP, Guanosine triphosphate | GS2, Griscelli syndrome type 2 | FHL, Familial Hemophagocytic lymphohistiocytosis | OMIM, Online Mendelian Inheritance in Man | HLH, Hemophagocytic lymphohistiocytosis | CTL, Cytotoxic T lymphocyte | Mlph, melanophilin | NK, Natural killer
Journal Article