Article
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Human genetics - 1 Apr 2006
Zhu Shigui, Hsu Amy P, Vacek Marla M, Zheng Lixin, Schäffer Alejandro A, Dale Janet K, Davis Joie, Fischer Roxanne E, Straus Stephen E, Boruchov Donna, Saulsbury Frank T, Lenardo Michael J, Puck Jennifer M
Abstract excerpt
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by lymphadenopathy, elevated numbers of T cells with alphabeta-T cell receptors but neither CD4 nor CD8 co-receptors, and impaired lymphocyte apoptosis in vitro. Defects in the Fas receptor are the most common cause of ALPS (ALPS Ia), but in rare cases other apoptosis proteins have been implicated, including caspase-10 (ALPS II). We investigated the...
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