Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 24, 2009, Pages 9809-9814

  Chia, Jenny ^a   Kim, Pin Yeo ^a   Whisstock, James C ^b   Dunstone, Michelle A ^b   Trapani, Joseph A ^a,b,c   Voskoboinik, Ilia ^a,c  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Hemophagocytic lymphohistiocytosis; Immunodeficiency; Leukemia; Lymphoma

Indexed keywords

PERFORIN;

ADOLESCENT; ADULT; ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CANCER INCIDENCE; CANCER SUSCEPTIBILITY; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOTOXICITY; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; GENETIC PREDISPOSITION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; INFANCY; INHERITANCE; MISSENSE MUTATION; MOUSE; MUTANT; MUTATION; NONHUMAN; NULL ALLELE; PATHOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; RAT; SCHOOL CHILD; TEMPERATURE SENSITIVITY; VIRUS INFECTION;

ALLELES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MUTATION, MISSENSE; PERFORIN; PROTEIN FOLDING; TEMPERATURE;

EID: 67649836342     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0903815106     Document Type: Article

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