目的:总结n ACP5基因突变致椎体软骨发育不良伴免疫调节异常(SPENCDI)患儿的临床表型及基因表型。n 方法:回顾性分析2017年2月23日郑州大学第一附属医院儿科1例SPENCDI患儿的临床资料及基因表型。以“椎体软骨发育不良伴免疫调节异常”、“spondyloenchondrodysplasia”为检索词，检索万方数据库、中国知网、PubMed数据库，进行文献复习。采用n χ2检验比较不同突变患儿间的因素。n 结果:患儿，女，4.5岁，2岁时因发热伴冻疮样皮疹就诊，诊断为系统性红斑狼疮(SLE)伴狼疮性肾炎，予激素联合环磷酰胺、吗替麦考酚酯治疗。治疗中出现频繁感染、血小板下降、跛行、生长落后。基因检测发现n ACP5基因复合杂合突变：c.779C>A，c.770T>C。确诊SPENCDI，随访中。文献检索到78例SPENCDI患者，临床表现多样，均有骨骼受累、免疫表型；抗核抗体阳性者73.08%，抗双链DNA(ds-DNA)抗体阳性者57.69%，34.62%有神经系统症状。58例基因检测示n ACP5基因突变，其中纯和突变44例，复合杂合突变14例。n ACP5基因纯和突变患者中父母近亲婚配率更高[56.82%(25/44例)比14.29%(2/14例)]，复合杂合突变患者更易合并SLE[64.29%(9/14例)比34.09%(15/44例)](n χ2＝7.722、3.992，均n PA and c. 770T>C.She was diagnosed with SPENCDI, and was subjected to follow-up.A total of 78 SPENCDI patients were retrieved from the databases, with various clinical manifestations of SPENCDI, commonly with skeletal involvement and immune phenotypes; 73.08% of the cases were positive for antinuclear antibodies, 57.69% of cases were positive for anti-double stranded-DNA antibodies and 34.62% of cases had neurological symptoms.In 58 cases,n ACP5 gene mutations were detected, including 44 homozygous mutations and 14 compound heterozygous mutations.Patients with n ACP5 gene homozygous mutation had a higher probability of consanguineous marriage in parents [56.82% (25/44 cases) n vs.14.29% (2/14 cases)]; patients with n ACP5 gene heterozygous mutation were more likely to develop SLE [64.29% (9/14 cases) n vs.34.09% (15/44 cases)](n χ2=7.722, 3.992; all n P<0.05).n Conclusions:The majority of the n ACP5 gene mutations are homozygous mutations in patients with SPENCDI, and heterozygous mutations are rare.The clinical manifestations of SPENCDI are various and complex, it is prone to develop autoimmune diseases, and there was no clear correlation between clinical features and gene phenotype in SPENCDI patients.n