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Increased risk of developing systemic lupus erythematosus (SLE) has been reported in patients with Klinefelter syndrome. Here, we describe a 16-year-old Japanese patient with trisomy X (47,XXX) who developed mixed connective tissue disease (MCTD) and Sjögren's syndrome. She had polyarthritis, edematous fingers with Raynaud's phenomenon, sicca syndrome, interstitial lung disease, possible myositis, and was positive for anti-nuclear antibody, anti-nRNP antibody and rheumatoid factor. This is the first report in the literature of a case of MCTD with female polysomy X, which further supports the link between the presence of extra X chromosome(s) and the development of autoimmune diseases. © The Author(s) 2015 Reprints and permissions:


M Fujimoto, K Ikeda, T Nakamura, T Iwamoto, S Furuta, H Nakajima. Development of mixed connective tissue disease and Sjögren's syndrome in a patient with trisomy X. Lupus. 2015 Oct;24(11):1217-20

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PMID: 25854827

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