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

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

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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.

Original languageEnglish (US)
Pages (from-to)478-481
Number of pages4
JournalGenes and Immunity
Volume10
Issue number5
DOIs
StatePublished - May 22 2009

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Turner Syndrome
Pedigree
Systemic Lupus Erythematosus
X Chromosome
Klinefelter Syndrome
African Americans
Genes

All Science Journal Classification (ASJC) codes

  • Immunology
  • Genetics
  • Genetics(clinical)

Cite this

Cooney, C. M., Bruner, G. R., Aberle, T., Namjou-Khales, B., Myers, L., Feo, L., ... Scofield, R. H. (2009). 46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE. Genes and Immunity, 10(5), 478-481. https://doi.org/10.1038/gene.2009.37

46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE. / Cooney, C. M.; Bruner, G. R.; Aberle, T.; Namjou-Khales, B.; Myers, Linda; Feo, L.; Li, S.; D'Souza, A.; Ramirez, A.; Harley, J. B.; Scofield, R. H.

In: Genes and Immunity, Vol. 10, No. 5, 22.05.2009, p. 478-481.

Research output: Contribution to journalArticle

Cooney, CM, Bruner, GR, Aberle, T, Namjou-Khales, B, Myers, L, Feo, L, Li, S, D'Souza, A, Ramirez, A, Harley, JB & Scofield, RH 2009, '46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE', Genes and Immunity, vol. 10, no. 5, pp. 478-481. https://doi.org/10.1038/gene.2009.37
Cooney, C. M. ; Bruner, G. R. ; Aberle, T. ; Namjou-Khales, B. ; Myers, Linda ; Feo, L. ; Li, S. ; D'Souza, A. ; Ramirez, A. ; Harley, J. B. ; Scofield, R. H. / 46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE. In: Genes and Immunity. 2009 ; Vol. 10, No. 5. pp. 478-481.
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