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A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome

21 Apr 2006

Abstract excerpt

Autoimmune 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...

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PMID: 16627752
DOI: 10.1182/blood-2006-04-015776

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