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lüll A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome Del-Rey M; Ruiz-Contreras J; Bosque A; Calleja S; Gomez-Rial J; Roldan E; Morales P; Serrano A; Anel A; Paz-Artal E; Allende LMBlood 2006[Aug]; 108 (4): 1306-12Autoimmune lymphoproliferative syndrome (ALPS) is characterized by lymphoproliferation and autoimmune clinical manifestations and is generally caused by defective Fas-mediated apoptosis. This report describes the first homozygous FASL gene mutation in a woman with clinical and immunologic features of ALPS. T-cell blasts from the patient did not induce FasL-mediated apoptosis on Fas-transfected murine L1210 or on Jurkat cells, and activation-induced cell death was impaired. Furthermore, Fas-dependent cytotoxicity was drastically reduced in COS cells transfected with the mutant FasL. In addition, FasL expression on T-cell blasts from the patient was similar to that observed in a healthy control, despite its bearing the high-producer genotype -844C/C in the FASL promoter. Sequencing of the patient's FASL gene revealed a new mutation in exon 4 (A247E). The location of A247E in the FasL extracellular domain and the conservation of the protein sequence of that region recorded in 8 species different from humans support the essential role of FasL COOH terminal domain in Fas/FasL binding. These findings provide evidence that inherited nonlethal FASL abnormalities cause an uncommon apoptosis defect producing lymphoproliferative disease, and they highlight the need for a review of the current ALPS classification to include a new ALPS type Ic subgroup.|*Homozygote[MESH]|*Point Mutation/immunology[MESH]|Adult[MESH]|Animals[MESH]|Apoptosis/genetics[MESH]|Autoimmune Diseases/*genetics/immunology[MESH]|COS Cells[MESH]|Chlorocebus aethiops[MESH]|Exons/genetics/immunology[MESH]|Fas Ligand Protein[MESH]|Female[MESH]|Humans[MESH]|Jurkat Cells[MESH]|Lymphoproliferative Disorders/*genetics/immunology[MESH]|Membrane Glycoproteins/*genetics/immunology[MESH]|Protein Binding/genetics/immunology[MESH]|Protein Structure, Tertiary/genetics[MESH]|Syndrome[MESH]|T-Lymphocytes/immunology[MESH]|Tumor Necrosis Factors/*genetics/immunology[MESH]|fas Receptor/genetics/immunology[MESH] |