Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

doi:10.1007/s10875-016-0252-y

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Article

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Journal of clinical immunology - 1 Apr 2016

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 Sébastien, 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-Bürgi Sabine, Vivarelli Marina, Wouters Carine, Bader-Meunier Brigitte, Crow Yanick J

Abstract excerpt

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...

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PMID: 26951490
DOI: 10.1007/s10875-016-0252-y
PMCID: PMC4792361

Genes

ACP5

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