Trisomy X in a patient with childhood-onset systemic lupus erythematosus

Journal of Translational Autoimmunity - Tập 3 - Trang 100043 - 2020
Fernanda B. Barbosa1, Nailu Angelica Sinicato2,3, Paulo Rogério Julio2,3, Ana Carolina Londe2,3, Roberto Marini4, Vera L. Gil-da-Silva-Lopes5, Simone Appenzeller3,6
1Laboratory of Recognition Biology, Center of Biosciences and Biotechnology, State University of North Fluminense (UENF), Campos Dos Goytacazes, RJ, Brazil
2Graduate Program of Child and Adolescent Health, School of Medical Science, University of Campinas, Brazil
3Laboratory of Autoimmune Disease, School of Medical Science, University of Campinas, Brazil
4Department of Pediatrics, School of Medical Science, University of Campinas, Brazil
5Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, Brazil
6Department of Medicine, Rheumatology Unit, School of Medical Sciences, UNICAMP, Campinas, SP, Brazil

Tài liệu tham khảo

Silva, 2012, Taxonomy for systemic lupus erythematosus with onset before adulthood, Arthritis Care Res., 64, 1787, 10.1002/acr.21757 Mina, 2013, Update on differences between childhood-onset and adult-onset systemic lupus erythematosus, Arthritis Res. Ther., 15, 218, 10.1186/ar4256 Cutolo, 2006, Estrogens and autoimmune diseases, Ann. N. Y. Acad. Sci., 1089, 538, 10.1196/annals.1386.043 Lleo, 2008, Is autoimmunity a matter of sex?, Autoimmun. Rev., 7, 626, 10.1016/j.autrev.2008.06.009 Jacobson, 1997, Epidemiology and estimated population burden of selected autoimmune diseases in the United States, Clin. Immunol. Immunopathol., 84, 223, 10.1006/clin.1997.4412 McMurray, 2003, Sex hormones and systemic lupus erythematosus: review and meta-analysis, Arthritis Rheum.: Official Journal of the American College of Rheumatology, 48, 2100, 10.1002/art.11105 Margery-Muir, 2017, Gender balance in patients with systemic lupus erythematosus, Autoimmun. Rev., 16, 258, 10.1016/j.autrev.2017.01.007 Dillon, 2012, Sex chromosome aneuploidies among men with systemic lupus erythematosus, J. Autoimmun., 38, J129, 10.1016/j.jaut.2011.10.004 Hochberg, 1997, Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus, Arthritis & Rheumatology, 40, 1725, 10.1002/art.1780400928 Barbosa, 2017, Ancestry informative marker panel to estimate population stratification using genome-wide human array, Ann. Hum. Genet., 81, 225, 10.1111/ahg.12208 Alexander, 2009, Fast model-based estimation of ancestry in unrelated individuals, Genome Res., 19, 1655, 10.1101/gr.094052.109 Liu, 2016, X chromosome dose and sex bias in autoimmune diseases: increased prevalence of 47, XXX in systemic lupus erythematosus and sjögren’s syndrome, Arthritis & Rheumatology, 68, 1290, 10.1002/art.39560 Tartaglia, 2010, A review of trisomy X (47, XXX), Orphanet J. Rare Dis., 5, 8, 10.1186/1750-1172-5-8 Kurosawa, 1991, Systemic lupus erythematosus in a patient with the 47, XXX karyotype, Arthritis Rheum.: Official Journal of the American College of Rheumatology, 34, 371, 10.1002/art.1780340317 Slae, 2014, Female polysomy-X and systemic lupus erythematosus, 508 Iwamoto, 2019, Manifestations of systemic lupus erythematosus in female patients with polysomy X: possible roles of chromosome X, Mod. Rheumatol., 29, 192, 10.1080/14397595.2016.1205800 Alvaro-Gracia, 1989, Systemic lupus erythematosus and tetrasomy-X, J. Rheumatol., 16, 1486 Desai, 2019, Autoimmune disease in women: endocrine transition and risk across the lifespan, Front. Endocrinol., 10, 265, 10.3389/fendo.2019.00265 Sharma, 2017, Brief report: rare X chromosome abnormalities in systemic lupus erythematosus and sjögren’s syndrome, Arthritis & Rheumatology, 69, 2187, 10.1002/art.40207 Sasidhar, 2012, The XX sex chromosome complement in mice is associated with increased spontaneous lupus compared with XY, Annals of the rheumatic diseases, 71, 1418, 10.1136/annrheumdis-2011-201246 Smith-Bouvier, 2008, A role for sex chromosome complement in the female bias in autoimmune disease, J. Exp. Med., 205, 1099, 10.1084/jem.20070850 Rasmussen, 2011, The lupus family registry and repository, Rheumatology, 50, 47, 10.1093/rheumatology/keq302 Scofield, 2008, 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., 58, 2511, 10.1002/art.23701 Dillon, 2011, Klinefelter’s syndrome (47, XXY) among men with systemic lupus erythematosus, Acta Paediatr., 100, 819, 10.1111/j.1651-2227.2011.02185.x Gustavson, 1999, Triple X syndrome deviation with mild symptoms, The majority goes undiagnosed. Lakartidningen, 96, 5646 Robinson, 1979, Summary of clinical findings: profiles of children with 47, XXY, 47 Robinson, 1979, Sex chromosome aneuploidy: prospective studies on children, Birth Defects Orig. Artic. Ser., 15 Ratcliffe, 1990, 59 Ratcliffe, 1986 Somers, 2014, Population-based incidence and prevalence of systemic lupus erythematosus: the Michigan Lupus Epidemiology and Surveillance program, Arthritis & rheumatology, 66, 369, 10.1002/art.38238