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Published in: Journal of Medical Case Reports 1/2022

Open Access 01-12-2022 | Systemic Lupus Erythematosus | Case report

Systemic lupus erythematosus with trisomy X: a case report and review of the literature

Authors: Fang Luo, Qiao Ye, Jie Shen

Published in: Journal of Medical Case Reports | Issue 1/2022

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Abstract

Background

The cause of systemic lupus erythematosus is not completely clear so far, but the prevalence of systemic lupus erythematosus is significantly increased in people with additional X chromosomes.

Case presentation

We report a 17-year-old Chinese female patient with systemic lupus erythematosus complicated with trisomy X, accompanied by lupus nephritis, pancytopenia, hemolytic anemia, and multiserous effusion. The patient recovered well after treatment and returned regularly. We review the previously reported cases to summarize the clinical characteristics of these patients.

Conclusion

The additional X chromosome is related to the development of systemic lupus erythematosus. Whether it is a subtype of systemic lupus erythematosus remains to be further confirmed.
Literature
2.
go back to reference Scofield RH, Bruner GR, Namjou B, 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(8):2511–7.CrossRefPubMedPubMedCentral Scofield RH, Bruner GR, Namjou B, 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(8):2511–7.CrossRefPubMedPubMedCentral
3.
go back to reference Balestrazzi P, Ferraccioli GF, Ambanelli U, Giovannelli G. Juvenile rheumatoid arthritis in Turner’s syndrome. Clin Exp Rheumatol. 1986;4(1):61–2.PubMed Balestrazzi P, Ferraccioli GF, Ambanelli U, Giovannelli G. Juvenile rheumatoid arthritis in Turner’s syndrome. Clin Exp Rheumatol. 1986;4(1):61–2.PubMed
4.
go back to reference Liu K, Kurien BT, Zimmerman SL, et al. X chromosome dose and sex bias in autoimmune diseases: increased prevalence of 47,XXX in systemic lupus erythematosus and Sjögren’s syndrome. Arthritis Rheumatol. 2016;68(5):1290–300.PubMedPubMedCentral Liu K, Kurien BT, Zimmerman SL, et al. X chromosome dose and sex bias in autoimmune diseases: increased prevalence of 47,XXX in systemic lupus erythematosus and Sjögren’s syndrome. Arthritis Rheumatol. 2016;68(5):1290–300.PubMedPubMedCentral
5.
go back to reference Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Ann Rheum Dis. 2019;78(9):1151–9.CrossRefPubMed Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Ann Rheum Dis. 2019;78(9):1151–9.CrossRefPubMed
6.
go back to reference Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus. Denmark Hum Genet. 1991;87(1):81–3.CrossRefPubMed Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus. Denmark Hum Genet. 1991;87(1):81–3.CrossRefPubMed
7.
go back to reference Jiao X, Qin C, Li J, et al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod. 2012;27(7):2201–7.CrossRefPubMed Jiao X, Qin C, Li J, et al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod. 2012;27(7):2201–7.CrossRefPubMed
8.
go back to reference Iwamoto T, Fujimoto M, Ikeda K, et al. Manifestations of systemic lupus erythematosus in female patients with polysomy X: possible roles of chromosome X. Mod Rheumatol. 2019;29(1):192–4.CrossRefPubMed Iwamoto T, Fujimoto M, Ikeda K, et al. Manifestations of systemic lupus erythematosus in female patients with polysomy X: possible roles of chromosome X. Mod Rheumatol. 2019;29(1):192–4.CrossRefPubMed
9.
go back to reference Barbosa FB, Sinicato NA, Julio PR, et al. Trisomy X in a patient with childhood-onset systemic lupus erythematosus. J Transl Autoimmun. 2020;3: 100043.CrossRefPubMedPubMedCentral Barbosa FB, Sinicato NA, Julio PR, et al. Trisomy X in a patient with childhood-onset systemic lupus erythematosus. J Transl Autoimmun. 2020;3: 100043.CrossRefPubMedPubMedCentral
10.
go back to reference Yamazaki S, Akutsu Y, Shimbo A, Shimizu M, Segawa Y, Mori M. Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report. Pediatr Rheumatol Online J. 2021;19(1):20.CrossRefPubMedPubMedCentral Yamazaki S, Akutsu Y, Shimbo A, Shimizu M, Segawa Y, Mori M. Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report. Pediatr Rheumatol Online J. 2021;19(1):20.CrossRefPubMedPubMedCentral
12.
go back to reference 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(4):508–12.CrossRefPubMed 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(4):508–12.CrossRefPubMed
13.
go back to reference Sharma R, Harris VM, Cavett J, et al. Rare X chromosome abnormalities in systemic lupus erythematosus and Sjögren’s Syndrome. Arthritis Rheumatol. 2017;69(11):2187–92.CrossRefPubMedPubMedCentral Sharma R, Harris VM, Cavett J, et al. Rare X chromosome abnormalities in systemic lupus erythematosus and Sjögren’s Syndrome. Arthritis Rheumatol. 2017;69(11):2187–92.CrossRefPubMedPubMedCentral
14.
go back to reference Dillon SP, Kurien BT, Li S, et al. Sex chromosome aneuploidies among men with systemic lupus erythematosus. J Autoimmun. 2012;38(2–3):J129–34.CrossRefPubMed Dillon SP, Kurien BT, Li S, et al. Sex chromosome aneuploidies among men with systemic lupus erythematosus. J Autoimmun. 2012;38(2–3):J129–34.CrossRefPubMed
15.
go back to reference Spolarics Z. The X-files of inflammation: cellular mosaicism of X-linked polymorphic genes and the female advantage in the host response to injury and infection. Shock. 2007;27(6):597–604.CrossRefPubMed Spolarics Z. The X-files of inflammation: cellular mosaicism of X-linked polymorphic genes and the female advantage in the host response to injury and infection. Shock. 2007;27(6):597–604.CrossRefPubMed
16.
go back to reference Sharma A, Kumar M, Aich J, et al. Posttranscriptional regulation of interleukin-10 expression by hsa-miR-106a. Proc Natl Acad Sci U S A. 2009;106(14):5761–6.CrossRefPubMedPubMedCentral Sharma A, Kumar M, Aich J, et al. Posttranscriptional regulation of interleukin-10 expression by hsa-miR-106a. Proc Natl Acad Sci U S A. 2009;106(14):5761–6.CrossRefPubMedPubMedCentral
17.
go back to reference Lu MC, Lai NS, Chen HC, et al. Decreased microRNA(miR)-145 and increased miR-224 expression in T cells from patients with systemic lupus erythematosus involved in lupus immunopathogenesis. Clin Exp Immunol. 2013;171(1):91–9.CrossRefPubMed Lu MC, Lai NS, Chen HC, et al. Decreased microRNA(miR)-145 and increased miR-224 expression in T cells from patients with systemic lupus erythematosus involved in lupus immunopathogenesis. Clin Exp Immunol. 2013;171(1):91–9.CrossRefPubMed
18.
go back to reference Xie L, Xu J. Role of miR-98 and its underlying mechanisms in systemic lupus erythematosus. J Rheumatol. 2018;45(10):1397–405.CrossRefPubMed Xie L, Xu J. Role of miR-98 and its underlying mechanisms in systemic lupus erythematosus. J Rheumatol. 2018;45(10):1397–405.CrossRefPubMed
19.
go back to reference Lu Q, Wu A, Tesmer L, Ray D, Yousif N, Richardson B. Demethylation of CD40LG on the inactive X in T cells from women with lupus. J Immunol. 2007;179(9):6352–8.CrossRefPubMed Lu Q, Wu A, Tesmer L, Ray D, Yousif N, Richardson B. Demethylation of CD40LG on the inactive X in T cells from women with lupus. J Immunol. 2007;179(9):6352–8.CrossRefPubMed
20.
go back to reference Kaufman KM, Zhao J, Kelly JA, 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(3):437–44.CrossRefPubMed Kaufman KM, Zhao J, Kelly JA, 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(3):437–44.CrossRefPubMed
21.
go back to reference Syrett CM, Paneru B, Sandoval-Heglund D, et al. Altered X-chromosome inactivation in T cells may promote sex-biased autoimmune diseases. JCI Insight. 2019;4:7.CrossRef Syrett CM, Paneru B, Sandoval-Heglund D, et al. Altered X-chromosome inactivation in T cells may promote sex-biased autoimmune diseases. JCI Insight. 2019;4:7.CrossRef
22.
go back to reference Zhang Y, Zhang J, Yang J, et al. Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus. Hum Mol Genet. 2015;24(1):274–84.CrossRefPubMed Zhang Y, Zhang J, Yang J, et al. Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus. Hum Mol Genet. 2015;24(1):274–84.CrossRefPubMed
Metadata
Title
Systemic lupus erythematosus with trisomy X: a case report and review of the literature
Authors
Fang Luo
Qiao Ye
Jie Shen
Publication date
01-12-2022
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2022
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-022-03478-5

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