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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
Girschick, Hermann; Wolf, Christine; Morbach, Henner; Hertzberg, Christoph; Lee-Kirsch, Min Ae
- 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.
- Subjects
SKELETAL dysplasia; AUTOIMMUNITY; DEVELOPMENTAL delay; AUTOIMMUNE diseases; SYSTEMIC lupus erythematosus; PEDIATRICS
- Publication
Pediatric Rheumatology, 2015, Vol 13, Issue 1, p1
- ISSN
1546-0096
- Publication type
Article
- DOI
10.1186/1546-0096-13-S1-P141