Dominant‐negative CARD11 loss‐of‐function variant presenting with hypereosinophilic syndrome

凤凰 医学 肺病学 家庭医学 眼科 病理 大都市区
作者
Bridget E. Wilson,Payge Van Stechelman,R Mariani,Nikita Goswami,Nicole Sidebottom,Cindy S. Bauer,Keith Sacco
出处
期刊:Pediatric Allergy and Immunology [Wiley]
卷期号:34 (11)
标识
DOI:10.1111/pai.14041
摘要

Pediatric Allergy and ImmunologyVolume 34, Issue 11 e14041 LETTER Dominant-negative CARD11 loss-of-function variant presenting with hypereosinophilic syndrome Bridget E. Wilson, Corresponding Author Bridget E. Wilson [email protected] orcid.org/0000-0002-1781-265X Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA Department of Medicine, Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA Correspondence Bridget E. Wilson, 13400 E. Shea Blvd., Scottsdale, AZ 85259, USA. Email: [email protected] Contribution: Writing - original draft, Conceptualization, Writing - review & editingSearch for more papers by this authorPayge Van Stechelman, Payge Van Stechelman Department of Pediatrics, Phoenix Children's, Phoenix, Arizona, USA Contribution: Writing - original draft, Writing - review & editingSearch for more papers by this authorRachel Mariani, Rachel Mariani Department of Pathology, Phoenix Children's, Phoenix, Arizona, USA Contribution: SupervisionSearch for more papers by this authorNikita Goswami, Nikita Goswami Division of Rheumatology, Phoenix Children's, Phoenix, Arizona, USA Contribution: SupervisionSearch for more papers by this authorNicole Sidebottom, Nicole Sidebottom Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA Contribution: SupervisionSearch for more papers by this authorCindy S. Bauer, Cindy S. Bauer Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, USA Contribution: SupervisionSearch for more papers by this authorKeith A. Sacco, Keith A. Sacco Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, USA Contribution: Writing - review & editing, Supervision, ConceptualizationSearch for more papers by this author Bridget E. Wilson, Corresponding Author Bridget E. Wilson [email protected] orcid.org/0000-0002-1781-265X Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA Department of Medicine, Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA Correspondence Bridget E. Wilson, 13400 E. Shea Blvd., Scottsdale, AZ 85259, USA. Email: [email protected] Contribution: Writing - original draft, Conceptualization, Writing - review & editingSearch for more papers by this authorPayge Van Stechelman, Payge Van Stechelman Department of Pediatrics, Phoenix Children's, Phoenix, Arizona, USA Contribution: Writing - original draft, Writing - review & editingSearch for more papers by this authorRachel Mariani, Rachel Mariani Department of Pathology, Phoenix Children's, Phoenix, Arizona, USA Contribution: SupervisionSearch for more papers by this authorNikita Goswami, Nikita Goswami Division of Rheumatology, Phoenix Children's, Phoenix, Arizona, USA Contribution: SupervisionSearch for more papers by this authorNicole Sidebottom, Nicole Sidebottom Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA Contribution: SupervisionSearch for more papers by this authorCindy S. Bauer, Cindy S. Bauer Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, USA Contribution: SupervisionSearch for more papers by this authorKeith A. Sacco, Keith A. Sacco Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's, Phoenix, Arizona, USA Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, USA Contribution: Writing - review & editing, Supervision, ConceptualizationSearch for more papers by this author First published: 20 November 2023 https://doi.org/10.1111/pai.14041 Editor: Carmen Riggioni Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Sullivan KE, Stiehm ER. Stiehm's Immune Deficiencies: Inborn Errors of Immunity. 2nd ed. Elsevier/Academic Press; 2020. 2Dorjbal B, Stinson JR, Ma CA, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019; 143(4): 1482-1495. 3Ma CA, Stinson JR, Zhang Y, et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet. 2017; 49(8): 1192-1201. Volume34, Issue11November 2023e14041 ReferencesRelatedInformation
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
Autin完成签到,获得积分0
1秒前
李清水完成签到,获得积分10
1秒前
1秒前
wanci应助赵雪萌采纳,获得10
3秒前
科研果发布了新的文献求助10
4秒前
4秒前
4秒前
6秒前
7秒前
7秒前
Amon完成签到 ,获得积分10
7秒前
Lillian完成签到,获得积分10
8秒前
桐桐应助畅快的涵蕾采纳,获得30
9秒前
胡翔完成签到,获得积分10
10秒前
10秒前
nyfz2002发布了新的文献求助10
10秒前
10秒前
Phung完成签到,获得积分20
11秒前
科研通AI5应助尔尔采纳,获得10
11秒前
佩佩发布了新的文献求助10
12秒前
赵雪萌完成签到,获得积分10
12秒前
Marilyn完成签到,获得积分10
13秒前
小朱佩奇发布了新的文献求助10
14秒前
情怀应助舒适的尔容采纳,获得10
15秒前
郭囯完成签到,获得积分10
16秒前
缥缈的背包完成签到,获得积分10
17秒前
七七完成签到 ,获得积分10
18秒前
fugu0完成签到,获得积分10
20秒前
Zenobia完成签到,获得积分10
22秒前
朱马大完成签到,获得积分10
22秒前
丘比特应助小兑采纳,获得10
22秒前
量子星尘发布了新的文献求助10
22秒前
23秒前
科研果完成签到,获得积分10
23秒前
23秒前
24秒前
共享精神应助LLL采纳,获得10
27秒前
一顾千年完成签到,获得积分10
27秒前
28秒前
豆豆完成签到,获得积分10
28秒前
高分求助中
A new approach to the extrapolation of accelerated life test data 1000
Cognitive Neuroscience: The Biology of the Mind 1000
Technical Brochure TB 814: LPIT applications in HV gas insulated switchgear 1000
ACSM’s Guidelines for Exercise Testing and Prescription, 12th edition 500
Picture Books with Same-sex Parented Families: Unintentional Censorship 500
Nucleophilic substitution in azasydnone-modified dinitroanisoles 500
不知道标题是什么 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3969884
求助须知:如何正确求助?哪些是违规求助? 3514604
关于积分的说明 11174901
捐赠科研通 3249928
什么是DOI,文献DOI怎么找? 1795149
邀请新用户注册赠送积分活动 875599
科研通“疑难数据库(出版商)”最低求助积分说明 804891