Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

A. Briggs, Tracy; Rice, Gillian; Adib, Navid; C. Adès, Lesley; Barète, Stéphane; Baskar, Kannan; Baudouin, Véronique; Nurcan Cebeci, Ayşe; Clapuyt, Philippe; Coman, David; De Somer, Lien; Finezilber, Yael; Frydman, Moshe; Güven, Ayla; Héritier, Sébastien; Karall, Daniela; L. Kulkarni, Muralidhar; Lebon, Pierre; Levitt, David; Le Merrer, Martine; Linglart, Agnès; H. Livingston, John; Navarro, Vincent; Okenfuss, Ericka; Puel, Anne; Revençu, Nicole; Scholl‐Bürgi, Sabine; Vivarelli, Marina; Wouters, Carine; Bader‐Meunier, Brigitte; J. Crow, Yanick

doi:10.1007/s10875-016-0252-y

Public

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Published in Journal of Clinical Immunology • Mar 8, 2016

Authors:

Tracy A. Briggs

Gillian Rice

Navid Adib

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 se...

Subject

Immune dysregulation

Immunology

Autoimmune disease

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