Adam J. Shapiro MD , Eveline Y. Wu MD , Deborah J. Morris-Rosendahl PhD , Kenneth N. Olivier MD , Sharon D. Dell MD , Scott D. Sagel MD , Cullen M. Dutmer MD , Ricardo A. Mosquera MD , Markus Rose MD , Michael G. O'Connor MD , Chi A. Ma PhD , Gulbu Uzel MD , Timothy J. Vece MD , Maimoona A. Zariwala PhD , Michael R. Knowles MD , Margaret W. Leigh MD , Stephanie D. Davis MD , Thomas W. Ferkol MD
{"title":"Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome","authors":"Adam J. Shapiro MD , Eveline Y. Wu MD , Deborah J. Morris-Rosendahl PhD , Kenneth N. Olivier MD , Sharon D. Dell MD , Scott D. Sagel MD , Cullen M. Dutmer MD , Ricardo A. Mosquera MD , Markus Rose MD , Michael G. O'Connor MD , Chi A. Ma PhD , Gulbu Uzel MD , Timothy J. Vece MD , Maimoona A. Zariwala PhD , Michael R. Knowles MD , Margaret W. Leigh MD , Stephanie D. Davis MD , Thomas W. Ferkol MD","doi":"10.1016/j.jpeds.2025.114499","DOIUrl":null,"url":null,"abstract":"<div><div>Primary ciliary dyskinesia and activated phosphoinositide 3-kinase delta syndrome type 1 present similarly, with recurrent respiratory infections and reduced nasal nitric oxide levels. When diagnostic confirmation of primary ciliary dyskinesia with genetic testing and/or ciliary electron microscopy is inconclusive, activated phosphoinositide 3-kinase delta syndrome type 1 and other inborn errors of immunity must be investigated.</div></div>","PeriodicalId":54774,"journal":{"name":"Journal of Pediatrics","volume":"280 ","pages":"Article 114499"},"PeriodicalIF":3.5000,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0022347625000393","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Primary ciliary dyskinesia and activated phosphoinositide 3-kinase delta syndrome type 1 present similarly, with recurrent respiratory infections and reduced nasal nitric oxide levels. When diagnostic confirmation of primary ciliary dyskinesia with genetic testing and/or ciliary electron microscopy is inconclusive, activated phosphoinositide 3-kinase delta syndrome type 1 and other inborn errors of immunity must be investigated.
期刊介绍：
The Journal of Pediatrics is an international peer-reviewed journal that advances pediatric research and serves as a practical guide for pediatricians who manage health and diagnose and treat disorders in infants, children, and adolescents. The Journal publishes original work based on standards of excellence and expert review. The Journal seeks to publish high quality original articles that are immediately applicable to practice (basic science, translational research, evidence-based medicine), brief clinical and laboratory case reports, medical progress, expert commentary, grand rounds, insightful editorials, “classic” physical examinations, and novel insights into clinical and academic pediatric medicine related to every aspect of child health. Published monthly since 1932, The Journal of Pediatrics continues to promote the latest developments in pediatric medicine, child health, policy, and advocacy.
Topics covered in The Journal of Pediatrics include, but are not limited to:
General Pediatrics
Pediatric Subspecialties
Adolescent Medicine
Allergy and Immunology
Cardiology
Critical Care Medicine
Developmental-Behavioral Medicine
Endocrinology
Gastroenterology
Hematology-Oncology
Infectious Diseases
Neonatal-Perinatal Medicine
Nephrology
Neurology
Emergency Medicine
Pulmonology
Rheumatology
Genetics
Ethics
Health Service Research
Pediatric Hospitalist Medicine.
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