PDF(Pubmed)
Abstract：
Spondyloenchondrodysplasia (SPENCD) is a rare spondylometaphyseal skeletal dysplasia with characteristic lesions mimicking enchondromatosis and resulting in short stature. A large spectrum of immunologic abnormalities may be seen in SPENCD, including immune deficiencies and autoimmune disorders. SPENCD is caused by loss of tartrate-resistant acid phosphatase activity, due to homozygous mutations in ACP5 , playing a role in nonnucleic-acid-related stimulation/regulation of the type I interferon pathway. In this article, we presented a 19-year-old boy with SPENCD, presenting with recurrent autoimmune hemolytic anemia episodes since he was 5 years old. He had short stature, platyspondyly, metaphyseal changes, intracranial calcification, spastic paraparesis, and mild intellectual disability. He also had recurrent pneumonia attacks. The clinical diagnosis of SPENCD was confirmed by sequencing of the ACP5 gene, and a homozygous c.155A > C (p.K52T) variation was found, which was reported before as pathogenic. In conclusion, in early onset chronic autoimmune cytopenias an immune dysregulation may often have a role in the etiology. Associating findings and immunologic functions should be carefully evaluated in such patients in the light of the literature. The present case shows the importance of multisystemic evaluation for the detection of SPENCD that has a monogenic etiology.
摘要：
脊柱软骨发育不良（SPENCD）是一种罕见的脊椎骨干骨骼发育不良，其特征性病变模仿软骨瘤病并导致身材矮小。在SPENCD中可以看到大量的免疫学异常，包括免疫缺陷和自身免疫性疾病。SPENCD是由抗酒石酸酸性磷酸酶活性丧失引起的，由于ACP5的纯合突变，在I型干扰素途径的非核酸相关刺激/调节中发挥作用。在这篇文章中,我们给一个19岁的男孩提供了SPENCD，他从5岁开始出现复发性自身免疫性溶血性贫血发作。他身材矮小，桔梗，干phy端改变,颅内钙化,痉挛性轻瘫,轻度智力残疾。他还反复发作肺炎。通过ACP5基因测序证实了SPENCD的临床诊断，和纯合c.155A>C（p。发现K52T)变异，这是以前报道的致病性。总之,在早期发作的慢性自身免疫性血细胞减少症中，免疫失调通常可能在病因中起作用。应根据文献仔细评估此类患者的发现和免疫功能。本病例显示了多系统评估对于检测具有单基因病因的SPENCD的重要性。
