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
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