期刊
GENES AND IMMUNITY
卷 10, 期 5, 页码 478-481出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gene.2009.37
关键词
systemic lupus erythematosus; Turner's syndrome; X chromosome; case report
资金
- NIH [AR62277, AR053734, AI24717, AR42460]
Systemic lupus erythematosus (SLE) disproportionately affects women. Recent work demonstrates that men with Klinefelter's syndrome (47, XXY men) have a similar risk of developing SLE as do women. We present an unusual African-American family with two SLE-affected individuals in which one of the patients with SLE also has Turner's syndrome (46,X,del(X)(q13)). Although not definitive, this family raises interesting questions regarding the function of genes located on the X chromosome in the development of SLE. The paucity of case reports documenting the overlap of SLE with Turner's syndrome while there is an association of male SLE with Klinefelter's syndrome suggests a lower risk of SLE in women with Turner's syndrome. These observations are consistent with a gene dose effect at X with two X chromosomes (46,XX or 47,XXY) conferring higher risk and one X chromosome (46,XY or 45,XO) conferring lower risk of SLE. Genes and Immunity (2009) 10, 478-481; doi: 10.1038/gene.2009.37; published online 21 May 2009
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