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

Please always quote using this URN: urn:nbn:de:bvb:20-opus-149990
  • 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 SPENCDSpondyloenchondrodysplasia (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.show moreshow less

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Metadaten
Author: Hermann Girschick, Christine Wolf, Henner Morbach, Christoph Hertzberg, Min Ae Lee-Kirsch
URN:urn:nbn:de:bvb:20-opus-149990
Document Type:Journal article
Faculties:Medizinische Fakultät / Kinderklinik und Poliklinik
Language:English
Parent Title (English):Pediatric Rheumatology
Year of Completion:2015
Volume:13
Issue:37
Source:Pediatric Rheumatology (2015) 13:37. DOI: 10.1186/s12969-015-0035-7
DOI:https://doi.org/10.1186/s12969-015-0035-7
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 618 Gynäkologie, Geburtsmedizin, Pädiatrie, Geriatrie
Tag:ACP5; autoimmunity; cerebral calcification; deficiency; dysplasia; expression; immunodeficiency; resistant acid phosphatase; spondyloenchondrodysplasia; systemic lupus erythematosus; trap; type I interferonopathy
Release Date:2017/10/10
Licence (German):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International