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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
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.
Afiliación
  • Briggs TA; Manchester Academic Heath Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.
Nat Genet ; 43(2): 127-31, 2011 Feb.
Article en En | MEDLINE | ID: mdl-21217755
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. Haplotype data indicated the disease gene to be on chromosome 19p13, and linkage analysis yielded a combined multipoint log(10) odds (LOD) score of 3.6. Sequencing of ACP5, encoding tartrate-resistant acid phosphatase, identified biallelic mutations in each of the cases studied, and in vivo testing confirmed a loss of expressed protein. All eight cases assayed showed elevated serum interferon alpha activity, and gene expression profiling in whole blood defined a type I interferon signature. Our findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type I interferon in the genesis of autoimmunity.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatasa Ácida / Enfermedades del Desarrollo Óseo / Interferón Tipo I / Regulación de la Expresión Génica / Isoenzimas Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2011 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatasa Ácida / Enfermedades del Desarrollo Óseo / Interferón Tipo I / Regulación de la Expresión Génica / Isoenzimas Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2011 Tipo del documento: Article Pais de publicación: Estados Unidos