Jimena Dri, Eugenia Dos Santos, Marcela Pereyra, María J Guillamondegui, Celeste Ballester, Ana Tolin, Cristina Gatica
{"title":"Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases.","authors":"Jimena Dri, Eugenia Dos Santos, Marcela Pereyra, María J Guillamondegui, Celeste Ballester, Ana Tolin, Cristina Gatica","doi":"10.5546/aap.2023-03031.eng","DOIUrl":null,"url":null,"abstract":"<p><p>Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.</p>","PeriodicalId":8338,"journal":{"name":"Archivos argentinos de pediatria","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archivos argentinos de pediatria","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5546/aap.2023-03031.eng","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/7/6 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.
期刊介绍:
Archivos Argentinos de Pediatría is the official publication of the Sociedad Argentina de Pediatría (SAP) and has been published without interruption since 1930. Its publication is bimonthly.
Archivos Argentinos de Pediatría publishes articles related to perinatal, child and adolescent health and other relevant disciplines for the medical profession.