A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome
Keywords: AKT, v-akt murine thymoma viral oncogene homolog 1; ALPS, autoimmune lymphoproliferative syndrome; AP-1, activator protein 1; CASP10, caspase-10; CCND1, cyclin D1; DN T cells, double negative T cells; ERK1/2, extracellular-signal regulated kinase 1/2; Fas