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- W2078127917 abstract "Similar to other autoimmune diseases, systemic lupus erythematosus (SLE) predominately affects women. Recent reports demonstrate excess Klinefelter's among men with SLE and a possible under-representation of Turner's syndrome among women with SLE as well as a case report of a 46,XX boy with SLE. These data suggest that risk of SLE is related to a gene dose effect for the X chromosome. Such an effect could be mediated by abnormal inactivation of genes on the X chromosome as has been demonstrated for CD40L, or by genetic polymorphism as has been demonstrated for Xq28. On the other hand, a gene dose effect could also be mediated by a gene without an SLE-associated polymorphism in that a gene that avoids X inactivation will have a higher level of expression in persons with two X chromosomes." @default.
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- W2078127917 date "2009-08-01" @default.
- W2078127917 modified "2023-10-18" @default.
- W2078127917 title "Autoimmunity and Klinefelter's syndrome: When men have two X chromosomes" @default.
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- W2078127917 doi "https://doi.org/10.1016/j.jaut.2009.03.006" @default.
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