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Open Access 01-12-2015 | Case Report

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

Authors: Hermann Girschick, Christine Wolf, Henner Morbach, Christoph Hertzberg, Min Ae Lee-Kirsch

Published in: Pediatric Rheumatology | Issue 1/2015

Abstract

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 a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations. These findings extend the phenotypic spectrum of SPENCD and indicate that ACP5 mutations can cause severe immune dysregulation and neurological impairment even in the absence of metaphyseal dysplasia.

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Title: Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
Authors: Hermann Girschick
Christine Wolf
Henner Morbach
Christoph Hertzberg
Min Ae Lee-Kirsch
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue 1/2015
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/s12969-015-0035-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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