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Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on...
Autores principales: | Girschick, Hermann, Wolf, Christine, Morbach, Henner, Hertzberg, Christoph, Lee-Kirsch, Min Ae |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562156/ https://www.ncbi.nlm.nih.gov/pubmed/26346816 http://dx.doi.org/10.1186/s12969-015-0035-7 |
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