Article
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.
Pediatric research - 1 Dec 2015
Ruiz-García Raquel, Mora Sergio, Lozano-Sánchez Gema, Martínez-Lostao Luis, Paz-Artal Estela, Ruiz-Contreras Jesús, Anel Alberto, González-Granado Luis I, Moreno-Pérez David, Allende Luis M
Abstract excerpt
BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency characterized by chronic lymphoproliferation, autoimmune manifestations, expansion of double-negative T-cells, and susceptibility to malignancies. Most cases of ALPS are caused by germline or somatic FAS mutations. We report the case of an ALPS patient due to a novel homozygous Fasligand gene mutation (ALPS-FASLG). METHODS:...
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