Department of Pediatric Rheumatology and Nephrology, Dr Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, Ankara, Turkey.
Gazi University Faculty of Medicine, Department of Immunology, Ankara, Turkey.
Eur J Med Genet. 2021 Sep;64(9):104286. doi: 10.1016/j.ejmg.2021.104286. Epub 2021 Jul 7.
Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by biallelic mutations in the ACP5 gene that encodes tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is extremely pleiotropic and is characterized by neurological impairment and immune dysfunction. This phenotype can mimic systemic lupus erythematosus. Herein, we report a child presented with systemic lupus erythematosus-like symptoms, including multisystem inflammation, autoimmunity, and immunodeficiency, but was subsequently diagnosed as SPENCD.
脊柱骨骺发育不良（SPENCD）是一种罕见的常染色体隐性骨骼发育不良，由 ACP5 基因的双等位基因突变引起，该基因编码抗酒石酸酸性磷酸酶（TRAP）。SPENCD 的骨外表型极其多样化，其特征是神经功能障碍和免疫功能紊乱。这种表型可模拟系统性红斑狼疮。在此，我们报告一例以系统性红斑狼疮样症状就诊的患儿，包括多系统炎症、自身免疫和免疫缺陷，但随后被诊断为 SPENCD。
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