The Functional Basis for Hemophagocytic Lymphohistiocytosis in a Patient with Co-inherited Missense Mutations in the Perforin (PFN1) Gene

About 30% of cases of the autosomal recessive immunodeficiency disorder hemophagocytic lymphohistiocytosis are believed to be caused by inactivating mutations of the perforin gene. We expressed perforin in rat basophil leukemia cells to define the basis of perforin dysfunction associated with two mu...

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Bibliographic Details
Main Authors: Voskoboinik, Ilia, Thia, Marie-Claude, De Bono, Annette, Browne, Kylie, Cretney, Erika, Jackson, Jacob T., Darcy, Phillip K., Jane, Stephen M., Smyth, Mark J., Trapani, Joseph A.
Format: Artigo
Language:Inglês
Published: The Rockefeller University Press 2004
Subjects:
Brief Definitive Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2211966/
https://ncbi.nlm.nih.gov/pubmed/15365097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20040776
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