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

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

  • Pediatr Rheumatol Online J. 2015 Sep 7;13(1):37. doi: 10.1186/s12969-015-0035-7.
Hermann Girschick 1,  Christine Wolf 2,  Henner Morbach 3,  Christoph Hertzberg 4,  Min Ae Lee-Kirsch 5
Affiliations

Affiliations

  • 1 Children's Hospital, Vivantes Hospital im Friedrichshain, Berlin, Germany. [email protected].
  • 2 Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. [email protected].
  • 3 Department of Pediatrics, University Clinics of Würzburg, Würzburg, Germany. [email protected].
  • 4 Socialpediatric Centre, Children's Hospital, Vivantes Hospital Neukölln, Berlin, Germany. [email protected].
  • 5 Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. [email protected].
PMID: 26346816 DOI: 10.1186/s12969-015-0035-7
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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