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46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE

Genes & Immunity volume 10, pages 478–481 (2009)Cite this article

Abstract

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.

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Acknowledgements

We especially thank the Lupus Family Registry and Repository staff for their hard work and data collection, and all our referring physicians whose lupus patient referrals make this work possible. Ms Ramirez was an OMRF Fleming Scholar while portions of this work were carried out. This study was funded by the following NIH grants: AR62277, AR053734, AI24717 and AR42460.

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Authors and Affiliations

  1. Oklahoma Medical Research Foundation, Oklahoma City, OK, USA

    C M Cooney, G R Bruner, T Aberle, B Namjou-Khales, L Feo, A D'Souza, A Ramirez, J B Harley & R H Scofield

  2. UT Medical Group Inc., Memphis, TN, USA

    L K Myers

  3. Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

    S Li, J B Harley & R H Scofield

  4. Department of Veterans Affairs Medical Center, Oklahoma City, OK, USA

    J B Harley & R H Scofield

Authors
  1. C M Cooney
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  2. G R Bruner
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  3. T Aberle
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  4. B Namjou-Khales
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  5. L K Myers
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  6. L Feo
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  7. S Li
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  8. A D'Souza
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  9. A Ramirez
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  10. J B Harley
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  11. R H Scofield
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Correspondence to R H Scofield.

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Cooney, C., Bruner, G., Aberle, T. et al. 46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE. Genes Immun 10, 478–481 (2009). https://doi.org/10.1038/gene.2009.37

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  • DOI: https://doi.org/10.1038/gene.2009.37

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