Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation

Acta Paediatrica, International Journal of Paediatrics

Volumn 99, Issue 5, 2010, Pages 778-780

  Danhaive, O ^a   Caniglia, M ^a   Devito, R ^a   Piersigilli, F ^a   Corchia, C ^a   Auriti, C ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Bone marrow transplantation; Liver transplantation; Natural killer cell; Perforin; T lymphocyte

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; C REACTIVE PROTEIN; CYCLOSPORIN; ETOPOSIDE; FERRITIN; GLUCOCORTICOID; PERFORIN; TRIACYLGLYCEROL;

ARTICLE; ARTIFICIAL VENTILATION; AUTOPSY; BILIRUBIN BLOOD LEVEL; BODY TEMPERATURE; BONE MARROW BIOPSY; BONE MARROW HYPOPLASIA; CASE REPORT; DISEASE COURSE; DOSE RESPONSE; DRUG MEGADOSE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEPATOSPLENOMEGALY; HUMAN; HYPERTRANSAMINASEMIA; INFANT; LIVER FAILURE; LIVER PARENCHYMA; LYMPHOCYTE ACTIVATION; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN JAUNDICE; PARTIAL THROMBOPLASTIN TIME; PETECHIA; PLASMA TRANSFUSION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTHROMBIN TIME; RESPIRATION DEPRESSION; STUPOR; SUDDEN DEATH; THROMBOCYTE TRANSFUSION;

BLOOD COAGULATION DISORDERS; FATAL OUTCOME; FEVER; HUMANS; INFANT, NEWBORN; JAUNDICE, NEONATAL; KILLER CELLS, NATURAL; LIVER FAILURE, ACUTE; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MUTATION; PERFORIN;

EID: 77950213863     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2009.01647.x     Document Type: Article

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