Article
[Autoimmune lymphoproliferative syndrome: molecular diagnosis in two families].
Medicina clinica - 3 May 2003
Cambronero Rosario, Cámara Carmen, López-Granados Eduardo, Ferreira Antonio, Fontán Gumersindo, García Rodríguez M Cruz
Abstract excerpt
BACKGROUND AND OBJECTIVE: The autoimmune lymphoproliferative syndrome (ALPS) is a disorder caused by a defect in lymphocytes' apoptosis and characterized by non malignant lymphoproliferation, autoimmune features and increased TCR alpha + CD4CD8 cells. Most patients have a mutation in the TNFRSF6 gene, which encodes the Fas protein. Our aim was to identify mutations in this gene in two families with possible ALPS...
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