{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:52:37Z","timestamp":1777369957829,"version":"3.51.4"},"reference-count":18,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,8,1]]},"abstract":"<jats:p>Pediatric-onset inflammatory myositis (IM) and systemic lupus erythematosus (SLE) are rare inflammatory diseases. Both result from the complex interaction of genetic and environmental factors. An increasing number of Mendelian conditions predisposing to the development of SLE have been recently identified. These include monogenic conditions, referred to as the type I interferonopathies, associated with a primary upregulation of type I interferon (IFN), a key cytokine in the pathogenesis of SLE and some cases of IM. Here, we report on a pediatric-onset inflammatory overlap phenotype in a 6-year-old girl who was shown to carry mosaic tetrasomy 9p. The patient presented with myositis overlapping with lupuslike features. Myositis was characterized by a proximal muscular weakness and HLA class I antigen myofiber overexpression on muscle biopsy. Lupus-like manifestations consisted of pericarditis, pleuritis, and positive antinuclear and anti-SSA (Sj\u00f6gren-syndrome A) antibodies. Complete remission was achieved with corticosteroids and mycophenolate mofetyl. Analysis of tetrasomy 9p showed mosaic tetrasomy in the 9p24.3q12 region, including the type I IFN cluster, and increased expression of IFN-stimulated genes. These data suggest that mosaic tetrasomy 9p can be associated with an upregulation of type I IFN signaling, predisposing to inflammatory myositis and lupus-like features. Thus, unexplained muscle or other organ involvement in patients carrying mosaic tetrasomy of the type IFN cluster of chromosome 9p should lead to the search for IM and\/or lupuslike disease, and karyotype should be performed in patients with SLE or IM with mental retardation.<\/jats:p>","DOI":"10.1542\/peds.2015-0724","type":"journal-article","created":{"date-parts":[[2015,7,28]],"date-time":"2015-07-28T00:19:27Z","timestamp":1438042767000},"page":"e544-e547","source":"Crossref","is-referenced-by-count":11,"title":["Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis"],"prefix":"10.1542","volume":"136","author":[{"given":"Marie-Louise","family":"Fr\u00e9mond","sequence":"first","affiliation":[{"name":"Service de P\u00e9diatrie, Universit\u00e9 Paris 13, Sorbonne Paris Cit\u00e9, H\u00f4pital Jean Verdier, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), Bondy Cedex, France;"},{"name":"Unit\u00e9 d\u2019Immunologie, H\u00e9matologie et Rhumatologie P\u00e9diatriques;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Gitiaux","sequence":"additional","affiliation":[{"name":"Service de Neurologie P\u00e9diatrique, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires, H\u00f4pital Necker Enfants Malades, AP-HP, Paris, France;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Bonnet","sequence":"additional","affiliation":[{"name":"M3C-Necker, Congenital and Pediatric Cardiology, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamazoust","family":"Guiddir","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie, Universit\u00e9 Paris 13, Sorbonne Paris Cit\u00e9, H\u00f4pital Jean Verdier, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), Bondy Cedex, France;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanick J.","family":"Crow","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom; and"},{"name":"Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Institut Imagine, Laboratory of Neurogenetics and Neuroinflammation, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lo\u00efc","family":"de Pontual","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie, Universit\u00e9 Paris 13, Sorbonne Paris Cit\u00e9, H\u00f4pital Jean Verdier, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), Bondy Cedex, France;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Bader-Meunier","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d\u2019Immunologie, H\u00e9matologie et Rhumatologie 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