title: Development of mixed connective tissue disease and Sjögren's syndrome in a patient with trisomy X.
abstract: 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.
authors: Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan Department of Diabetes, Metabolism and Endocrinology, Chiba University Hospital, Chiba, Japan.
authors: M
authors: M
authors: Fujimoto
authors: Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan K.Ikeda@faculty.chiba-u.jp.
authors: K
authors: K
authors: Ikeda
authors: Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan.
authors: T
authors: T
authors: Nakamura
authors: Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan.
authors: T
authors: T
authors: Iwamoto
authors: Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan.
authors: S
authors: S
authors: Furuta
authors: Department of Allergy and Clinical Immunology, Chiba University Hospital, Chiba, Japan.
authors: H
authors: H
authors: Nakajima
mesh_terms: D000293:Adolescent; D000974:Antibodies, Antinuclear / Q000032:analysis; D061067:Antibodies, Monoclonal, Humanized / Q000008:administration & dosage; D041321:Chromosomes, Human, X; D005260:Female; D005938:Glucocorticoids / Q000008:administration & dosage; D006801:Humans; D007564:Japan; D007713:Klinefelter Syndrome / Q000235:genetics; D008947:Mixed Connective Tissue Disease / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D009220:Myositis / Q000097:blood / Q000473:pathology; D011239:Prednisolone / Q000008:administration & dosage; D011928:Raynaud Disease / Q000097:blood / Q000473:pathology; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000150:complications*; D012859:Sjogren's Syndrome / Q000235:genetics*; D014314:Trisomy
chemical_list: D000974:Antibodies, Antinuclear; D061067:Antibodies, Monoclonal, Humanized; D005938:Glucocorticoids; D011239:Prednisolone; C502936:tocilizumab
keywords: Klinefelter’s syndrome; Mixed connective tissue disease; Sjögren’s syndrome; polysomy X; trisomy X