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  • Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

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    Author(s)
    Briggs, Tracy A
    Rice, Gillian I
    Adib, Navid
    Ades, Lesley
    Barete, Stephane
    Baskar, Kannan
    Baudouin, Veronique
    Cebeci, Ayse N
    Clapuyt, Philippe
    Coman, David
    De Somer, Lien
    Finezilber, Yael
    Frydman, Moshe
    Guven, Ayla
    Heritier, Sebastien
    Karall, Daniela
    Kulkarni, Muralidhar L
    Lebon, Pierre
    Levitt, David
    Le Merrer, Martine
    Linglart, Agnes
    Livingston, John H
    Navarro, Vincent
    Okenfuss, Ericka
    Puel, Anne
    Revencu, Nicole
    Scholl-Burgi, Sabine
    Vivarelli, Marina
    Wouters, Carine
    Bader-Meunier, Brigitte
    Crow, Yanick J
    Griffith University Author(s)
    Coman, Dave J.
    Year published
    2016
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    Abstract
    Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. Methods: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. Results: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune ...
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    Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. Methods: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. Results: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus. Four patients were considered to demonstrate no clinical autoimmune disease, although two were positive for autoantibodies. In the majority of patients tested we detected upregulated expression of interferon-stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein tartrate resistant acid phosphatase (TRAP). Two mutation positive patients did not demonstrate an upregulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy. Conclusions: Our data expand the known phenotype of SPENCD. We propose that the OMIM differentiation between spondyloenchondrodysplasia and spondyloenchondrodysplasia with immune dysregulation is no longer appropriate, since the molecular evidence that we provide suggests that these phenotypes represent a continuum of the same disorder. In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia.
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    Journal Title
    Journal of Clinical Immunology
    Volume
    36
    Issue
    3
    DOI
    https://doi.org/10.1007/s10875-016-0252-y
    Copyright Statement
    © The Author(s) 2016. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
    Subject
    Immunology
    Immunology not elsewhere classified
    Publication URI
    http://hdl.handle.net/10072/100130
    Collection
    • Journal articles

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