The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene

Journal of Experimental Medicine

Volumn 200, Issue 6, 2004, Pages 811-816

  Voskoboinik, Ilia ^a   Thia, Marie Claude ^a   De Bono, Annette ^a   Browne, Kylie ^a   Cretney, Erika ^a   Jackson, Jacob T ^a   Darcy, Phillip K ^a   Jane, Stephen M ^b   Smyth, Mark J ^a   Trapani, Joseph A ^a  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

Author keywords

CTL; Cytotoxic granule; HLH; Immunodeficiency; NK cell

Indexed keywords

CALCIUM; PERFORIN; TUBULIN;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; CYTOTOXICITY; EXOCYTOSIS; GENE; GENETIC TRANSFECTION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HETEROZYGOTE; IMMUNE DEFICIENCY; IMMUNOPEROXIDASE STAINING; LEUKEMIA CELL LINE; LIPID MEMBRANE; MAST CELL LEUKEMIA; MISSENSE MUTATION; NATURAL KILLER CELL; NONHUMAN; PFN1 GENE; PRIORITY JOURNAL; RAT; SECRETORY GRANULE; WESTERN BLOTTING; WILD TYPE;

ANIMALS; HISTIOCYTOSIS, NON-LANGERHANS-CELL; HUMANS; MEMBRANE GLYCOPROTEINS; MUTATION, MISSENSE; PORE FORMING CYTOTOXIC PROTEINS; RATS; T-LYMPHOCYTES, CYTOTOXIC;

EID: 4644319653     PISSN: 00221007     EISSN: None     Source Type: Journal    
DOI: 10.1084/jem.20040776     Document Type: Article

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