Familial hemophagocytic lymphohistiocytosis with A665 G perforin gene mutation: A case report;A665G perforin gen mutasyonu olan ailesel hemofagositik lenfohistiyositozis: Bir olgu sunumu

Turkish Journal of Hematology

Volumn 29, Issue 3, 2012, Pages 265-269

  Yenicesu, Idil ^a   De Saint Basile, Geneviève ^b   Emeksiz, Hamdi Cihan ^a   Dalgiç, Buket ^a  

^a GAZI UNIVERSITY   (Turkey)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

A665G homozygous mutation; Familial hemophagocytic lymphohistiocytosis; Perforin gene; Prenatal diagnosis; Turkey

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CEFTRIAXONE; CYTOTOXIC FACTOR; FERRITIN; FLUCONAZOLE; LACTATE DEHYDROGENASE; PERFORIN; PROTEINASE; TEICOPLANIN; URIC ACID;

ANTIBIOTIC THERAPY; ARTERIAL GAS; ARTICLE; ARTIFICIAL VENTILATION; BONE MARROW BIOPSY; CASE REPORT; CELL DEATH; CHILD; COUGHING; DEATH; ENZYME RELEASE; ERYTHROPHAGOCYTOSIS; EXOCYTOSIS; FERRITIN BLOOD LEVEL; FEVER; GENE MUTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HUMAN; JAUNDICE; LOWER RESPIRATORY TRACT INFECTION; MALE; METABOLIC ACIDOSIS; MULTIPLE ORGAN FAILURE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; RESPIRATION DEPRESSION;

EID: 84864836641     PISSN: 13007777     EISSN: 13085263     Source Type: Journal    
DOI: 10.5505/tjh.2012.62134     Document Type: Article

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