<i>Fas</i>Gene Mutations in the Canale–Smith Syndrome, an Inherited Lymphoproliferative Disorder Associated with Autoimmunity

Abstract excerpt

BACKGROUND: The Canale-Smith syndrome is a childhood disorder characterized by lymphadenopathy and autoimmunity. The similarity between this syndrome and that in mice with the lymphoproliferation (lpr) phenotype or the generalized-lymphoproliferative-disease (gld) phenotype led us to investigate whether it too is caused by mutations of the Fas gene (lpr mice) or the Fas ligand (gld mice), which regulate apoptosis...

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