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    J Autoimmun. 2009 Aug;33(1):31-4. doi: 10.1016/j.jaut.2009.03.006. Epub 2009 May 22.

    Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes.

    Sawalha AH, Harley JB, Scofield RH.

    Source

    Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.

    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.

    PMID:
    19464849
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2885450
    Free PMC Article

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