X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up.

IF 1.4 Q4 IMMUNOLOGY American journal of clinical and experimental immunology Pub Date : 2021-02-15 eCollection Date: 2021-01-01
İlke Yıldırım, Ezgi Topyıldız, Raziye Burcu Güven Bilgin, Ayça Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer
{"title":"X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up.","authors":"İlke Yıldırım,&nbsp;Ezgi Topyıldız,&nbsp;Raziye Burcu Güven Bilgin,&nbsp;Ayça Aykut,&nbsp;Asude Durmaz,&nbsp;Neslihan Edeer Karaca,&nbsp;Guzide Aksu,&nbsp;Necil Kutukculer","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Introduction-Objective: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease predominantly with antibody deficiency and characterized by recurrent pyogenic infections, absence of B cells and agammaglobulinemia. In this study, it is aimed to review the demographic data of our XLA patients and examine the frequency of severe bacterial and mild infections and benefits of immunoglobulin replacement therapies to reduce the rate of infections. In addition, correlations between genotypic results and clinical and laboratory findings were searched.</p><p><strong>Patients and methods: </strong>In this study, 20 patients who were followed-up between 1995-2019 and diagnosed with XLA by flow cytometric and genetic tests were included. Demographic data, symptoms at admission and follow-up, laboratory data and radiologic imaging findings, previous infections, immunoglobulin replacement treatments, and genetic analysis results of the patients were recorded.</p><p><strong>Results: </strong>All patients in the study were male and the mean age of onset of symptoms was 60 months. The mean age at diagnosis was 72 months. A total of 19 different mutations were identified in the Bruton-tyrosine kinase gene, six of them were novel. Our eldest patient was 34 years old and the longest follow-up period was 24 years. Respiratory tract infections were the most common in the patients, only 35% of the causative agents were found in sputum cultures and H. influenzae type b (57.8%) was isolated most frequently. Both intravenous and subcutaneous immunoglobulin replacement therapies significantly reduced the number of severe bacterial infections and other mild infections.</p><p><strong>Conclusion: </strong>XLA is a rare pediatric primary immunodeficiency disease and affected individuals require lifelong immunoglobulin replacement therapy. Immunoglobulin replacement prevents life-threatening infections and dramatically increases survival rates. The patients with regular treatment and follow-up, reach adulthood and has a high quality of life.</p>","PeriodicalId":72163,"journal":{"name":"American journal of clinical and experimental immunology","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2021-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012299/pdf/ajcei0010-0037.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American journal of clinical and experimental immunology","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"IMMUNOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Introduction-Objective: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease predominantly with antibody deficiency and characterized by recurrent pyogenic infections, absence of B cells and agammaglobulinemia. In this study, it is aimed to review the demographic data of our XLA patients and examine the frequency of severe bacterial and mild infections and benefits of immunoglobulin replacement therapies to reduce the rate of infections. In addition, correlations between genotypic results and clinical and laboratory findings were searched.

Patients and methods: In this study, 20 patients who were followed-up between 1995-2019 and diagnosed with XLA by flow cytometric and genetic tests were included. Demographic data, symptoms at admission and follow-up, laboratory data and radiologic imaging findings, previous infections, immunoglobulin replacement treatments, and genetic analysis results of the patients were recorded.

Results: All patients in the study were male and the mean age of onset of symptoms was 60 months. The mean age at diagnosis was 72 months. A total of 19 different mutations were identified in the Bruton-tyrosine kinase gene, six of them were novel. Our eldest patient was 34 years old and the longest follow-up period was 24 years. Respiratory tract infections were the most common in the patients, only 35% of the causative agents were found in sputum cultures and H. influenzae type b (57.8%) was isolated most frequently. Both intravenous and subcutaneous immunoglobulin replacement therapies significantly reduced the number of severe bacterial infections and other mild infections.

Conclusion: XLA is a rare pediatric primary immunodeficiency disease and affected individuals require lifelong immunoglobulin replacement therapy. Immunoglobulin replacement prevents life-threatening infections and dramatically increases survival rates. The patients with regular treatment and follow-up, reach adulthood and has a high quality of life.

分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
x连锁无球蛋白血症:ınvestigation临床和实验室发现,新的基因突变和预防ınfective并发症的长期随访。
简介-目的:x -连锁无球蛋白血症(XLA)是一种以抗体缺乏为主的原发性免疫缺陷疾病,以反复化脓性感染、B细胞缺乏和无球蛋白血症为特征。在这项研究中,目的是回顾我们的XLA患者的人口统计数据,检查严重细菌感染和轻度感染的频率,以及免疫球蛋白替代疗法降低感染率的益处。此外,研究了基因型结果与临床和实验室结果之间的相关性。患者和方法:本研究纳入了1995-2019年间随访并通过流式细胞术和基因检测诊断为XLA的20例患者。记录患者的人口学资料、入院和随访时的症状、实验室资料和影像学表现、既往感染、免疫球蛋白替代治疗和遗传分析结果。结果:本组患者均为男性,平均发病年龄为60个月。诊断时的平均年龄为72个月。布鲁顿酪氨酸激酶基因共发现19个不同的突变,其中6个为新突变。患者年龄最大,34岁,最长随访时间24年。呼吸道感染最为常见,痰培养中仅检出35%的病原菌,以b型流感嗜血杆菌(57.8%)检出最多。静脉注射和皮下免疫球蛋白替代疗法均可显著减少严重细菌感染和其他轻度感染的数量。结论:XLA是一种罕见的儿童原发性免疫缺陷疾病,患者需要终身免疫球蛋白替代治疗。免疫球蛋白替代可预防危及生命的感染,并显著提高生存率。患者经定期治疗和随访,达到成年期,生活质量高。
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 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Advance in the mechanism and clinical research of myalgia in long COVID. Characterization of tumor suppressors and oncogenes evaluated from TCGA cancers. Clinical utility of multi-row spiral CT in diagnosing hepatic nodular lesions, gastric cancer, and Crohn's disease: a comprehensive meta-analysis. Effectiveness study of surface electromyography combined with spine 3D data system to evaluate scoliosis. The relationship between metabolites and gout: a Mendelian randomization study.
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1