Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus

被引:19
作者
Andre, J-M
Cimaz, R.
Ranchin, B.
Galambrun, C.
Bertrand, Y.
Rieux-Laucat, F.
Trescol-Biemont, M-C
Cochat, P.
Bonnefoy-Berard, N.
机构
[1] Inserm U503, F-67007 Lyon, France
[2] Hop Debrousse, Serv Immunohematol Pediat, Hospices Civils Lyon, Lyon, France
[3] Hop Edouard Herriot, Hospices Civils Lyon, Dept Pediat, Lyon, France
[4] Univ Lyon 1, F-69365 Lyon, France
[5] Hop Edouard Herriot, Lab Anatomopathol, Hospices Civils De Lyon, Lyon, France
[6] Hop Necker Enfants Malad, Inserm U768, Paris, France
[7] Univ Lyon, Lyon, France
[8] IFR 128, Lyon, France
关键词
apoptosis; B-cells; Bfl-1; Bcl-2; lupus; EXPRESSION; BCL-2; LYMPHOMA; MUTATION; SUBTYPES; TARGET;
D O I
10.1177/0961203306075382
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:95 / 100
页数:6
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