Evidence of increased humoral endocrine organ-specific autoimmunity in severe and classic X-chromosome aneuploidies in comparison with 46,XY control subjects

References

• Invernizzi P, Pasini S, Selmi C, et al. Skewing of X chromosome inactivation in autoimmunity. Autoimmunity. 2008;41:272–277.
   PubMed Web of Science ®Google Scholar
• Kivity S, Ehrenfeld M. Can we explain the higher prevalence of autoimmune disease in women? Expert Rev Clin Immunol. 2010;6:691–694.
   PubMed Web of Science ®Google Scholar
• Oktenli C, Yesilova Z, Kocar IH. Study of autoimmunity in Klinefelter’s syndrome and idiopathic hypogonadotropic hypogonadism. J Clin Immunol. 2002;22:137–143.
   PubMed Web of Science ®Google Scholar
• Huang Q, Parfitt A, Grennan DM, et al. X-chromosome inactivation in monozygotic twins with systemic lupus erythematosus. Autoimmunity. 1997;26:85–93.
   PubMed Web of Science ®Google Scholar
• Abramowitz LA, Olivier-Van Stichelen S, Hanover JA. Chromosome imbalance as a driver of sex disparity in disease. J Genomics. 2014;2:77–88.
   PubMedGoogle Scholar
• Cutolo M, Sulli A, Capellino S, et al. Sex hormones influence on the immune system: basic and clinical aspects in autoimmunity. Lupus. 2004;13:635–638.
   PubMed Web of Science ®Google Scholar
• Atassi MZ, Casali P. Molecular mechanisms of autoimmunity. Autoimmunity. 2008;41:123–132.
   PubMed Web of Science ®Google Scholar
• Hughes GC, Clark EA. Regulation of dendritic cells by female sex steroids: relevance to immunity and autoimmunity. Autoimmunity. 2007;40:470–481.
   PubMed Web of Science ®Google Scholar
• Lanfranco F, Kamischke A, Zitzmann M, et al. Klinefelter's syndrome. Lancet. 2004;364:273–283.
   PubMed Web of Science ®Google Scholar
• Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995;96:672–682.
   PubMed Web of Science ®Google Scholar
• Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42.
   PubMed Web of Science ®Google Scholar
• Visootsak J, Graham JM Jr. Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev. 2009;15:328–332.
   PubMed Web of Science ®Google Scholar
• Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. Clin Pediatr (Phila). 2001;40:639–651.
   PubMed Web of Science ®Google Scholar
• Tartaglia N, Ayari N, Howell S, et al. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011;100:851–860.
   PubMed Web of Science ®Google Scholar
• Spaziani M, Mileno B, Rossi FM, et al. Endocrine and metabolic evaluation of classic Klinefelter syndrome and high grade aneuploidies of sexual chromosome with male phenotype: are they different clinical conditions? Eur J Endocrinol. 2018;178:343–352.
   PubMed Web of Science ®Google Scholar
• Seminog O, Seminog AB, Yeates D, et al. Associations between Klinefelter’s syndrome and autoimmune diseases: English national record linkage studies. Autoimmunity. 2015;48:125–128.
   PubMed Web of Science ®Google Scholar
• Cai X-p, Zhao L, Mao M, et al. A case of Klinefelter's syndrome with type 1 diabetes mellitus. Chin Med J. 2012;125:937–940.,
   PubMed Web of Science ®Google Scholar
• French MAH, Hughes P. Systemic lupus erythematosus and Klinefelter's syndrome. Ann Rheum Dis. 1983;42:471–473.
   PubMed Web of Science ®Google Scholar
• Panimolle F, Tiberti C, Granato S, et al. Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter’s syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. Endocrine. 2016;52:157–164.
   PubMed Web of Science ®Google Scholar
• Eisenbarth GS. Update in type 1 diabetes. J Clin Endocrinol Metab. 2007;92:2403–2417.
   PubMed Web of Science ®Google Scholar
• Knip M, Siljander H. Autoimmune mechanisms in type 1 diabetes. Autoimmun Rev. 2008;7:550–557.
   PubMed Web of Science ®Google Scholar
• Winqvist O, Karlsson FA, Kämpe O. 21-Hydroxylase, a major autoantigen in idiopathic Addison's disease. Lancet. 1992;339:1559–1562.
   PubMed Web of Science ®Google Scholar
• Bednarek J, Furmaniak J, Wedlock N, et al. Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease. FEBS Lett. 1992;309:51–55.
   PubMed Web of Science ®Google Scholar
• Weetman AP. Chronic autoimmune thyroiditis. In: Braverman LE, Utiger RD, editors. Werner & Ingbar’s the thyroid: a fundamental and clinical text. 8th ed. Philadelphia: Lippincott Williams & Wilkins; 2000. p. 721–732.
   Google Scholar
• Strickland RG, Mackay I. A reappraisal of the nature and significance of chronic atrophic gastritis. Am J Dig Dis. 1973;18:426–440.
   PubMedGoogle Scholar
• Tiberti C, Yu L, Lucantoni F, et al. Detection of four diabetes specific autoantibodies in a single radioimmunoassay: an innovative high-throughput approach for autoimmune diabetes screening. Clin Exp Immunol. 2011;166:317–324.
   PubMed Web of Science ®Google Scholar
• Vardi P, Dib SA, Tuttleman M, et al. Competitive insulin autoantibody RIA: prospective evaluation of subjects at high risk for development of Type 1 diabetes mellitus. Diabetes. 1987;36:1286–1291.
   PubMed Web of Science ®Google Scholar
• Grubin CE, Daniels T, Toivola B, et al. A novel radioligand binding assay to determine diagnostic accuracy of isoform-specific glutamic acid decarboxylase antibodies in childhood IDDM. Diabetologia. 1994;37:344–350.
   PubMed Web of Science ®Google Scholar
• Törn C, Mueller PW, Schlosser M, et al. Diabetes Antibody Standardization Program: evaluation of assays for autoantibodies to glutamic acid decarboxylase and islet antigen-2. Diabetologia. 2008;51:846–852.
   PubMed Web of Science ®Google Scholar
• Park S, Kawasaki E, Kelemen K, et al. Humoral autoreactivity to an alternatively spliced variant of ICA512/IA-2 in type I diabetes. Diabetologia. 2000;43:1293–1301.
   PubMed Web of Science ®Google Scholar
• Tiberti C, Verrienti A, Fiore B, et al. IA-2 combined epitope assay: a new, highly sensitive approach to evaluate IA-2 humoral autoimmunity in type 1 diabetes. Clin Immunol. 2005;115:260–267.
   PubMed Web of Science ®Google Scholar
• Wenzlau JM, Juhl K, Yu L, et al. The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes. Proc Natl Acad Sci USA. 2007;104:17040–17045.
   PubMed Web of Science ®Google Scholar
• Wenzlau JM, Juhl K, Yu L, et al. The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes. Proc Natl Acad Sci USA. 2007;104:17040–17045.
   PubMed Web of Science ®Google Scholar
• Lampasona V, Schlosser M, Mueller PW, et al. Diabetes antibody standardization program: first proficiency evaluation of assays for autoantibodies to zinc transporter 8. Clin Chem. 2011;57:1693–1702.
   PubMed Web of Science ®Google Scholar
• Falorni A, Nikoshkov A, Laureti S, et al. High diagnostic accuracy for idiopathic Addison’s disease with a sensitive radiobinding assay for autoantibodies against recombinant human 21-hydroxylase. J Clin Endocrinol Metab. 1995;80:2752–2755.
   PubMed Web of Science ®Google Scholar
• Falorni A, Chen S, Zanchetta R, et al. Measuring adrenal autoantibody response: interlaboratory concordance in the first international serum exchange for the determination of 21-hydroxylase autoantibodies. Clin Immunol. 2011;140:291–299.
   PubMed Web of Science ®Google Scholar
• Huber G, Staub JJ, Meier C, et al. Prospective study of the spontaneous course of subclinical hypothyroidism: prognostic value of thyrotropin, thyroid reserve, and thyroid antibodies. J Clin Endocrinol Metab. 2002;87:3221–3226.
   PubMed Web of Science ®Google Scholar
• Whittingham S, Mackay IR. Pernicious anemia and gastric atrophy. In: Rose NR, Mackay IR, editors. The autoimmune diseases. New York: Academic Press; 1985. p. 243–266.
   Google Scholar
• Kocar IH, Yesilova Z, Ozata M, et al. The effect of testosterone replacement treatment on immunological features of patients with Klinefelter's syndrome. Clin Exp Immunol. 2000;121:448–452.
   PubMed Web of Science ®Google Scholar
• Bonomi M, Rochira V, Pasquali D, et al. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest. 2017;40:123–134.
   PubMed Web of Science ®Google Scholar
• Kim HJ, Kim D, Shin JM, et al. 49,XXXXY syndrome with diabetes mellitus. Horm Res. 2006;65:14–17.
   PubMedGoogle Scholar
• Maclaren NK, Lan MS, Schatz D, et al. Multiple autoantibodies as predictors of type 1 diabetes in a general population. Diabetologia. 2003;46:873–874.
   PubMed Web of Science ®Google Scholar
• Barker JM, Yu J, Yu L, et al. Autoantibody “subspecificity” in type 1 diabetes: risk for organ-specific autoimmunity clusters in distinct groups. Diabetes Care. 2005;28:850–855.
   PubMed Web of Science ®Google Scholar
• Pietropaolo M, Towns R, Eisenbarth GS. Humoral autoimmunity in type 1 diabetes: prediction, significance, and detection of distinct disease subtypes. Cold Spring Harb Perspect Med. 2012;2:a012831–a012818.
   PubMed Web of Science ®Google Scholar
• Bojesen A, Juul S, Birkebaek NH, et al. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab. 2006;91:1254–1260.
   PubMed Web of Science ®Google Scholar
• Bojesen A, Høst C, Gravholt CH. Klinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition. Mol Hum Reprod. 2010;16:396–401.
   PubMed Web of Science ®Google Scholar
• Høst C, Skakkebaek A, Groth KA, et al. The role of hypogonadism in Klinefelter Syndrome. Asian J Androl. 2014;16:185–191.
   PubMed Web of Science ®Google Scholar
• Livingstone C, Collison M. Sex steroids and insulin resistance. Clin Sci. 2002;102:151–166.
   PubMed Web of Science ®Google Scholar