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Autoimmune lymphoproliferative syndrome with somatic Fas mutations.

http://www.ncbi.nlm.nih.gov/pubmed/15459302

BACKGROUND: Impaired Fas-induced apoptosis of lymphocytes in vitro is a principal feature of the autoimmune lymphoproliferative syndrome (ALPS). We studied six children with ALPS whose lymphocytes had normal sensitivity to Fas-induced apoptosis in vitro. METHODS: Susceptibility to Fas-mediated apoptosis and the Fas gene were analyzed in purified subgroups of T cells and other mononuclear cells from six patients with ALPS type III. RESULTS: Heterozygous dominant Fas mutations were detected in the polyclonal double-negative T cells from all six patients. In two patients, these mutations were found in a fraction of CD4+ and CD8+ T cells, monocytes, and CD34+ hematopoietic precursors, but not in hair or mucosal epithelial cells. CONCLUSIONS: Somatic heterozygous mutations of Fas can cause a sporadic form of ALPS by allowing lymphoid precursors to resist the normal process of cell death.

Pubmed ID: 15459302 RIS Download

Mesh terms: Adolescent | Antigens, CD95 | Apoptosis | Autoimmune Diseases | Cells, Cultured | Child | DNA Mutational Analysis | Female | Gene Expression | Hematopoiesis | Heterozygote | Humans | Lymphoproliferative Disorders | Male | Mosaicism | Mutation | Phenotype | Polymerase Chain Reaction | Receptors, Antigen, T-Cell | T-Lymphocytes

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