Clin Exp Immunol 2021 May 12. Epub 2021 May 12.
Center of Rare Diseases, Section of Medical Pathophysiology, Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Current literature on systemic autoimmune diseases in X-chromosome aneuploidies is scarce and limited to case reports. Our aim was to evaluate the frequency of anti-nuclear(ANAs)-, extractable nuclear(ENA)-, anti-double-strandedDNA(dsDNAs)-, anti-smooth muscle(ASMAs)-, and anti-mitochondrial(AMAs)-antibodies in a large cohort of adults with Klinefelter's syndrome(KS, 47,XXY) and rare higher-grade sex chromosome aneuploidies(HGAs) for the first time. Sera from 138 X-chromosome aneuploid patients [124 adult patients with 47,XXY KS and 14 patients with HGA (six children, eight adults)] and 50 age-matched 46,XY controls were recruited from the Sapienza University of Rome(2007-2017) and tested for ANAs,ENAs,anti-dsDNAs,ASMAs and AMAs. Read More