Article
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Nature genetics - 1 Feb 2011
Briggs Tracy A, Rice Gillian I, Daly Sarah, Urquhart Jill, Gornall Hannah, Bader-Meunier Brigitte, Baskar Kannan, Baskar Shankar, Baudouin Veronique, Beresford Michael W, Black Graeme C M, Dearman Rebecca J, de Zegher Francis, Foster Emily S, Francès Camille, Hayman Alison R, Hilton Emma, Job-Deslandre Chantal, Kulkarni Muralidhar L, Le Merrer Martine, Linglart Agnes, Lovell Simon C, Maurer Kathrin, Musset Lucile, Navarro Vincent, Picard Capucine, Puel Anne, Rieux-Laucat Frederic, Roifman Chaim M, Scholl-Bürgi Sabine, Smith Nigel, Szynkiewicz Marcin, Wiedeman Alice, Wouters Carine, Zeef Leo A H, Casanova Jean-Laurent, Elkon Keith B, Janckila Anthony, Lebon Pierre, Crow Yanick J
Abstract excerpt
We studied ten individuals from eight families showing features consistent with the immuno-osseous dysplasia spondyloenchondrodysplasia. Of particular note was the diverse spectrum of autoimmune phenotypes observed in these individuals (cases), including systemic lupus erythematosus, Sjögren's syndrome, hemolytic anemia, thrombocytopenia, hypothyroidism, inflammatory myositis, Raynaud's disease and vitiligo....
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