Advanced search
Publication Cover
Modern Rheumatology Volume 29, 2019 - Issue 1
Journal homepage
185
Views
4
CrossRef citations to date
0
Altmetric
Case Report

Manifestations of systemic lupus erythematosus in female patients with polysomy X: Possible roles of chromosome X

Taro IwamotoDepartment of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan, ;Department of Immunology, Division of Rheumatology, Mayo Clinic, Rochester, MN, USA, and
,
Masanori FujimotoDepartment of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan, ;Department of Diabetes, Metabolism and Endocrinology, Chiba University Hospital, Chiba, Japan
,
Kei IkedaDepartment of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan, Correspondence[email protected]
,
Aiko SakuDepartment of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan,
,
Sohei MakitaDepartment of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan,
,
Shunsuke FurutaDepartment of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan,
,
Timothy B. NiewoldDepartment of Immunology, Division of Rheumatology, Mayo Clinic, Rochester, MN, USA, and
&
Hiroshi NakajimaDepartment of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan,
show all
Pages 192-194 | Received 31 Mar 2016, Accepted 28 May 2016, Published online: 12 Jul 2016

References

  • Dillon SP, Kurien BT, Li S, Bruner GR, Kaufman KM, Harley JB, et al. Sex chromosome aneuploidies among men with systemic lupus erythematosus. J Autoimmun. 2012;38:J129–34.
  • Scofield RH, Bruner GR, Namjou B, Kimberly RP, Ramsey-Goldman R, Petri M, et al. Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum. 2008;58:2511–7.
  • Rovensky J, Imrich R, Lazurova I, Payer J. Rheumatic diseases and Klinefelter's syndrome. Ann N Y Acad Sci. 2010;1193:1–9.
  • Sasaki N, Yamauchi K, Sato R, Masuda T, Sawai T, Inoue H. Klinefelter's syndrome associated with systemic lupus erythematosus and autoimmune hepatitis. Mod Rheumatol. 2006;16:305–8.
  • Liu K, Kurien BT, Zimmerman SL, Kaufman KM, Taft DH, Kottyan LC, et al. X Chromosome dose and sex bias in autoimmune diseases: increased 47,XXX in systemic lupus erythematosus and Sjogren's syndrome. Arthritis Rheumatol. 2016;68:1290–300.
  • Lenoble L, Kaplan G. Systemic lupus erythematosus in a woman with primary 47,XXX hypogonadism. Rev Med Interne. 1987;8:430–2.
  • Alvaro-Gracia JM, Humbria A, Garcia-Vicuna R, Ariza A, Garcia-Vadillo A, Laffon A. Systemic lupus erythematosus and tetrasomy-X. J Rheumatol. 1989;16:1486–8.
  • Kurosawa S, Kimura O, Sagawa A. Systemic lupus erythematosus in a patient with the 47,XXX karyotype. Arthritis Rheum. 1991;34:371–2.
  • Slae M, Heshin-Bekenstein M, Simckes A, Heimer G, Engelhard D, Eisenstein EM. Female polysomy-X and systemic lupus erythematosus. Semin Arthritis Rheum. 2014;43:508–12.
  • Fujimoto M, Ikeda K, Nakamura T, Iwamoto T, Furuta S, Nakajima H. Development of mixed connective tissue disease and Sjögren's syndrome in a patient with trisomy X. Lupus. 2015;24:1217–20.
  • Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997;40:1725.
  • Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010;18:265–71.
  • Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005;434:400–4.
  • Moraes LM, Cardoso LC, Moura VL, Moreira MA, Menezes AN, Llerena JC. Jr., et al. Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy. Mol Cytogenet. 2009;2:20.
  • Sasidhar MV, Itoh N, Gold SM, Lawson GW, Voskuhl RR. The XX sex chromosome complement in mice is associated with increased spontaneous lupus compared with XY. Ann Rheum Dis. 2012;71:1418–22.
  • Hoyer KK, Wolslegel K, Dooms H, Abbas AK. Targeting T cell-specific costimulators and growth factors in a model of autoimmune hemolytic anemia. J Immunol. 2007;179:2844–50.
  • Subramanian S, Tus K, Li QZ, Wang A, Tian XH, Zhou J, et al. A Tlr7 translocation accelerates systemic autoimmunity in murine lupus. Proc Natl Acad Sci USA. 2006;103:9970–5.
  • Sawalha AH, Harley JB, and Scofield RH. Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes. J Autoimmun. 2009;33:31–4.
  • Kaufman KM, Zhao J, Kelly JA, Hughes T, Adler A, Sanchez E, et al. Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Ann Rheum Dis. 2013;72:437–44.
  • Kelley J, Johnson MR, Alarcon GS, Kimberly RP, Edberg JC. Variation in the relative copy number of the TLR7 gene in patients with systemic lupus erythematosus and healthy control subjects. Arthritis Rheum. 2007;56:3375–8.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.