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

Pediatric Rheumatology Online Journal
H GirschickMin Ae Lee-Kirsch

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.

References

Dec 2, 2011·Annals of the New York Academy of Sciences·Yanick J Crow
Dec 17, 2014·The Journal of Clinical Investigation·Claudia GüntherMin Ae Lee-Kirsch

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Citations

Mar 10, 2016·Journal of Clinical Immunology·Tracy A BriggsYanick J Crow
Jul 26, 2017·Frontiers in Endocrinology·Takanori UtsumiMasao Kobayashi
May 17, 2018·Rheumatology International·Ezgi Deniz Batu
Jan 20, 2021·International Reviews of Immunology·Maryam MohtashamiReza Yazdani
Mar 5, 2021·European Journal of Medical Genetics·Ummusen Kaya AkcaSeza Ozen
Jul 11, 2021·European Journal of Medical Genetics·Esra BağlanMehmet Bülbül

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