Journal
LUPUS
Volume 16, Issue 2, Pages 95-100Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/0961203306075382
Keywords
apoptosis; B-cells; Bfl-1; Bcl-2; lupus
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Genetic determinants taking part in the development of systemic lupus erythernatosus (SLE) are complex and not fully characterized. Dysregulated expression of genes involved in the control of apoptosis has been previously suggested. We report here a consanguineous family with SLE manifestations in three siblings associated in one of them with severe lymphoproliferative features. Laboratory studies showed no defect in CD95-mediated cell death. Screening expression of Bcl-2 family genes that regulate mitochondrial apoptosis pathway showed an overexpression of the antiapoptotic Bfl-1 gene. Real time RT-PCR analysis indicated that overexpression of Bfl-1 was restricted to B-cells, with normal expression in T-cells. Those results suggest that overexpression of Bfl-1 could result in impaired B-lymphocyte homeostasis and inappropriate immune response leading to autoimmune manifestations.
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