• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

A Case of Severe Combined Immunodeficiency Missed by Newborn Screening.

作者信息

Kitcharoensakkul Maleewan, Aluri Jahnavi, Elsharkawi Ibrahim, Steed Ashley, Putnam Christopher D, Swayampakula Anil K, Cooper Megan A, Bednarski Jeffrey J

机构信息

Department of Pediatrics, Division of Rheumatology/Immunology, Washington University School of Medicine, Campus box 8116, One Children's Place, Saint Louis, MO, 63110, USA.

Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Washington University School of Medicine, St. Louis, MO, USA.

出版信息

J Clin Immunol. 2021 Aug;41(6):1352-1355. doi: 10.1007/s10875-021-01020-8. Epub 2021 Mar 12.

DOI:10.1007/s10875-021-01020-8
PMID:33712943
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7954206/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7504/7954206/a4dd442e7a2b/10875_2021_1020_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7504/7954206/a4dd442e7a2b/10875_2021_1020_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7504/7954206/a4dd442e7a2b/10875_2021_1020_Fig1_HTML.jpg

相似文献

1
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening.一例新生儿筛查漏诊的重症联合免疫缺陷病例。
J Clin Immunol. 2021 Aug;41(6):1352-1355. doi: 10.1007/s10875-021-01020-8. Epub 2021 Mar 12.
2
Identification of an infant with severe combined immunodeficiency by newborn screening.通过新生儿筛查识别出一名患有严重联合免疫缺陷的婴儿。
J Allergy Clin Immunol. 2010 Nov;126(5):1073-4. doi: 10.1016/j.jaci.2010.08.043. Epub 2010 Oct 8.
3
Newborn Screening for Severe Combined Immunodeficiency: Changing the Landscape of Pediatric Primary Immunodeficiencies.严重联合免疫缺陷的新生儿筛查：改变儿童原发性免疫缺陷的格局。
J Allergy Clin Immunol Pract. 2015 Nov-Dec;3(6):1008-9.
4
World Primary Immunodeficiency Week: a call for newborn screening.世界原发性免疫缺陷病周：呼吁开展新生儿筛查。
Eur J Immunol. 2014 Apr;44(4):925-6. doi: 10.1002/eji.201470035.
5
[Neonatal screening of severe combined immunodeficiencies].[新生儿重症联合免疫缺陷病筛查]
Orv Hetil. 2018 Jun;159(23):948-956. doi: 10.1556/650.2018.31106.
6
Improved immunoassay for the detection of severe combined immunodeficiency.用于检测重症联合免疫缺陷的改良免疫测定法。
Clin Chem. 2011 Aug;57(8):1207-9. doi: 10.1373/clinchem.2011.162263. Epub 2011 May 13.
7
Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study.在法国单中心研究中，评估干血滤纸片上T细胞受体切除环检测用于严重联合免疫缺陷新生儿筛查的性能。
Clin Immunol. 2014 Feb;150(2):137-9. doi: 10.1016/j.clim.2013.11.012. Epub 2013 Dec 1.
8
Screening newborn babies for SCID.对新生儿进行重症联合免疫缺陷病筛查。
MLO Med Lab Obs. 2016 Nov;48(11):30-31.
9
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.从新生儿筛查面板中添加严重联合免疫缺陷中得到的测序经验。
Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S7-S9. doi: 10.1002/hast.875.
10
Expert commentary: practical issues in newborn screening for severe combined immune deficiency (SCID).专家评论：严重联合免疫缺陷（SCID）新生儿筛查中的实际问题。
J Clin Immunol. 2012 Feb;32(1):36-8. doi: 10.1007/s10875-011-9598-3. Epub 2011 Oct 20.

引用本文的文献

1
Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.免疫缺陷病的风湿性和自身免疫性特征：对诊断和管理的启示
J Hum Immun. 2025 Sep 1;1(3). doi: 10.70962/jhi.20250034. Epub 2025 Jul 23.
2
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.利用基因组测序进行扩展新生儿筛查以发现早期可采取行动的疾病。
JAMA. 2025 Jan 21;333(3):232-240. doi: 10.1001/jama.2024.19662.
3
Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.
父母参与新生儿筛查后识别疑似无汗症婴儿家庭的信息需求。
J Clin Immunol. 2024 Mar 8;44(3):79. doi: 10.1007/s10875-024-01678-w.
4
Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.美国一家三级医疗中心对新生儿严重联合免疫缺陷症阳性筛查患儿的免疫结果和临床结局
Front Immunol. 2021 Sep 3;12:734096. doi: 10.3389/fimmu.2021.734096. eCollection 2021.