Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature.

IF 1.5 4区 医学 Q4 IMMUNOLOGY
Central European Journal of Immunology Pub Date : 2024-01-01 Epub Date: 2024-11-08 DOI:10.5114/ceji.2024.143229
Chen Sun, Pingyang Han, Juzhen Yan
{"title":"Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature.","authors":"Chen Sun, Pingyang Han, Juzhen Yan","doi":"10.5114/ceji.2024.143229","DOIUrl":null,"url":null,"abstract":"<p><p>22q11.2 deletion syndrome (MIM: 192430/188400, ORPHA: 567) is the most common chromosomal microdeletion disorder, caused by a hemizygous microdeletion of 2.5 million base pairs on chromosome 22. There is a known association between 22q11.2 deletion syndrome (22q11.2DS), immunodeficiency and autoimmune diseases. However, the co-occurrence of 22q11.2DS and systemic lupus erythematosus (SLE) has been rarely reported. Here, we describe a case of a female teenager with distal type I 22q11.2DS who presented with alopecia, oral ulcers, fever and thrombocytopenia. Laboratory tests showed positive antinuclear antibodies (ANA) and double-stranded DNA (ds-DNA) antibodies, indicative of SLE. Treatment with prednisone, hydroxychloroquine and azathioprine resulted in improvement. We reviewed the literature on the immunological mechanisms involved in 22q11.2DS. Thymic dysplasia, T-cell lymphopenia, and B-cell abnormalities collectively contribute to the immunodeficiency and autoimmune manifestations observed in individuals with 22q11.2DS. Genetic factors such as 22q11.2DS should be considered in the diagnosis of childhood rheumatic diseases. Our case adds to the limited literature on this co-occurrence.</p>","PeriodicalId":9694,"journal":{"name":"Central European Journal of Immunology","volume":"49 3","pages":"315-319"},"PeriodicalIF":1.5000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11664810/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Central European Journal of Immunology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5114/ceji.2024.143229","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/8 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"IMMUNOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

22q11.2 deletion syndrome (MIM: 192430/188400, ORPHA: 567) is the most common chromosomal microdeletion disorder, caused by a hemizygous microdeletion of 2.5 million base pairs on chromosome 22. There is a known association between 22q11.2 deletion syndrome (22q11.2DS), immunodeficiency and autoimmune diseases. However, the co-occurrence of 22q11.2DS and systemic lupus erythematosus (SLE) has been rarely reported. Here, we describe a case of a female teenager with distal type I 22q11.2DS who presented with alopecia, oral ulcers, fever and thrombocytopenia. Laboratory tests showed positive antinuclear antibodies (ANA) and double-stranded DNA (ds-DNA) antibodies, indicative of SLE. Treatment with prednisone, hydroxychloroquine and azathioprine resulted in improvement. We reviewed the literature on the immunological mechanisms involved in 22q11.2DS. Thymic dysplasia, T-cell lymphopenia, and B-cell abnormalities collectively contribute to the immunodeficiency and autoimmune manifestations observed in individuals with 22q11.2DS. Genetic factors such as 22q11.2DS should be considered in the diagnosis of childhood rheumatic diseases. Our case adds to the limited literature on this co-occurrence.

22q11.2缺失综合征患者的系统性红斑狼疮1例报告及文献复习。
22q11.2缺失综合征(MIM: 192430/188400, ORPHA: 567)是最常见的染色体微缺失疾病,由22号染色体上250万个碱基对的半合子微缺失引起。已知22q11.2缺失综合征(22q11.2 ds)与免疫缺陷和自身免疫性疾病之间存在关联。然而,22q11.2DS与系统性红斑狼疮(SLE)同时发生的报道很少。在这里,我们描述了一个案例的女性青少年远I型22q11.2DS谁提出了脱发,口腔溃疡,发烧和血小板减少。实验室检查显示抗核抗体(ANA)和双链DNA (ds-DNA)抗体阳性,提示SLE。强的松、羟氯喹和硫唑嘌呤治疗改善。我们对22q11.2DS相关的免疫学机制进行了综述。胸腺发育不良、t细胞淋巴细胞减少和b细胞异常共同导致22q11.2DS患者的免疫缺陷和自身免疫表现。在诊断儿童风湿性疾病时应考虑22q11.2DS等遗传因素。我们的案例增加了关于这种共生现象的有限文献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
3.00
自引率
0.00%
发文量
17
审稿时长
6-12 weeks
期刊介绍: Central European Journal of Immunology is a English-language quarterly aimed mainly at immunologists.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信