Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
Authors
Briggs, TRice, G
Daly, S
Urquhart, J
Gornall, H
Bader-Meunier, B
Baskar, K
Baskar, S
Baudouin, V
Beresford, M
Black, G
Dearman, R
de Zegher, F
Foster, E
Francès, C
Hayman, A
Hilton, E
Job-Deslandre, C
Kulkarni, M
Le Merrer, M
Linglart, A
Lovell, S
Maurer, K
Musset, L
Navarro, V
Picard, C
Puel, A
Rieux-Laucat, F
Roifman Chaim, M
Scholl-Bürgi, S
Smith, N
Szynkiewicz, M
Wiedeman, A
Wouters, C
Zeef, L
Casanova, J
Elkon, K
Janckila, A
Lebon, P
Crow, Y
Affiliation
Manchester Academic Heath Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.Issue Date
2011-02
Metadata
Show full item recordAbstract
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.Citation
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. 2011, 43 (2):127-31 Nat GenetJournal
Nature GeneticsDOI
10.1038/ng.748PubMed ID
21217755Type
ArticleLanguage
enISSN
1546-1718ae974a485f413a2113503eed53cd6c53
10.1038/ng.748
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