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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2004
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211966/
https://www.ncbi.nlm.nih.gov/pubmed/15365097
http://dx.doi.org/10.1084/jem.20040776

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211966/
https://www.ncbi.nlm.nih.gov/pubmed/15365097
http://dx.doi.org/10.1084/jem.20040776

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