The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
Open accessAbstract
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 log10 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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Lee-Kirsch, M. A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.-A., de Silva, U., Bailey, S. L., Witte, T., Vyse, T. J., et al. (2007) · Nature Genetics · doi:10.1038/ng2091 · Cited by 730 · cited 2×
“In relation to SLE, together with deficiency of early components of the classical complement pathway 17 and mutations in TREX1 18 , TRAP deficiency now represents a third monogenic disorder associated with the development of lupus also showing an up-regulation of type I interferon activity 19 , 20 , 21 .”
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Amary, M. F., Bacsi, K., Maggiani, F., Damato, S., Halai, D., Berisha, F., Pollock, R., O'Donnell, P., Grigoriadis, A., Diss, T., et al. (2011) · The Journal of Pathology · doi:10.1002/path.2913 · Cited by 1,023
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Self-citationPansuriya, T. C., van Eijk, R., d'Adamo, P., van Ruler, M. A. J. H., Kuijjer, M. L., Oosting, J., Cleton-Jansen, A.-M., van Oosterwijk, J. G., Verbeke, S. L. J., Meijer, D., et al. (2011) · Nature Genetics · doi:10.1038/ng.1004 · Cited by 559
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Zhang, X., Bogunovic, D., Payelle-Brogard, B., Francois-Newton, V., Speer, S. D., Yuan, C., Volpi, S., Li, Z., Sanal, O., Mansouri, D., et al. (2015) · Nature · doi:10.1038/nature13801 · Cited by 558
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Metadata
- Authors
- Briggs, T. A., Rice, G. I., Daly, S., Urquhart, J., Gornall, H., Bader-Meunier, B., Baskar, K., Baskar, S., Baudouin, V., Beresford, M. W., Black, G. C. M., Dearman, R. J., de Zegher, F., Foster, E. S., Francès, C., Hayman, A. R., Hilton, E., Job-Deslandre, C., Kulkarni, M. L., Le Merrer, M., Linglart, A., Lovell, S. C., Maurer, K., Musset, L., Navarro, V., Picard, C., Puel, A., Rieux-Laucat, F., Roifman, C. M., Scholl-Bürgi, S., Smith, N., Szynkiewicz, M., Wiedeman, A., Wouters, C., Zeef, L. A. H., Casanova, J.-L., Elkon, K. B., Janckila, A., Lebon, P., & Crow, Y. J.
- Venue
- Nature Genetics
- Published
- 2011-01-09
- Volume
- 43
- Issue
- 2
- Pages
- 127-131
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2147843065
- Cited by
- 261
- References
- 1
- FWCI
- 7.61
- Type
- journal article
- Language
- en
- Open access
- green
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- Briggs, T. A., Rice, G. I., Daly, S., Urquhart, J., Gornall, H., Bader-Meunier, B., Baskar, K., Baskar, S., Baudouin, V., Beresford, M. W., Black, G. C. M., Dearman, R. J., de Zegher, F., Foster, E. S., Francès, C., Hayman, A. R., Hilton, E., Job-Deslandre, C., Kulkarni, M. L., . . . Crow, Y. J. (2011). Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nature Genetics. https://doi.org/10.1038/ng.748
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
