Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.
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.
Children's Hospital, Vivantes Hospital im Friedrichshain, Berlin, Germany. Hermann.Girschick@vivantes.de.
Hermann
H
Girschick
Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. christine.wolf@uniklinikum-dresden.de.
Christine
C
Wolf
Department of Pediatrics, University Clinics of Würzburg, Würzburg, Germany. Morbach_H@ukw.de.
Henner
H
Morbach
Socialpediatric Centre, Children's Hospital, Vivantes Hospital Neukölln, Berlin, Germany. Christoph.Hertzberg@vivantes.de.
Christoph
C
Hertzberg
Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. minae.lee-kirsch@uniklinikum-dresden.de.
Min Ae
MA
Lee-Kirsch
D000135:Acid Phosphatase / Q000235:genetics*; D001327:Autoimmune Diseases / Q000150:complications* / Q000235:genetics*; D015551:Autoimmunity; D001847:Bone Diseases / Q000150:complications; D002648:Child; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications; D007249:Inflammation / Q000150:complications; D007527:Isoenzymes / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009128:Muscle Spasticity / Q000150:complications; D009154:Mutation; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics*; D000071681:Tartrate-Resistant Acid Phosphatase; D014057:Tomography, X-Ray Computed
D007527:Isoenzymes; C000605510:ACP5 protein, human; D000135:Acid Phosphatase; D000071681:Tartrate-Resistant Acid Phosphatase