Evidence map›Paper›PMID 39922272›Full record

ArticleThe Journal of pediatrics2025

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.

Adam J Shapiro, Eveline Y Wu, Deborah J Morris-Rosendahl, Kenneth N Olivier, Sharon D Dell, Scott D Sagel, Cullen M Dutmer, Ricardo A Mosquera, Markus Rose, Michael G O'Connor and 8 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Adam J ShapiroDepartment of Pediatrics, McGill University Health Centre Research Institute, Montreal, QC, Canada. Electronic address: Adam.shapiro@muhc.mcgill.ca.
Eveline Y WuDepartment of Pediatrics, University of North Carolina, Chapel Hill, NC.
Deborah J Morris-RosendahlRoyal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust and Imperial College London, NHLI, London, United Kingdom.
Kenneth N OlivierDepartment of Medicine, University of North Carolina, Chapel Hill, NC.
Sharon D DellDepartment of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada.
Scott D SagelDepartment of Pediatrics, University of Colorado, Aurora, CO.
Cullen M DutmerDepartment of Pediatrics, University of Colorado, Aurora, CO.
Ricardo A MosqueraDepartment of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX.
Markus RosePediatric Pulmonology and Allergy, Klinikum Stuttgart, Stuttgart, Germany.
Michael G O'ConnorDepartment of Pediatrics, Vanderbilt University, Nashville, TN.
Chi A MaNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Gulbu UzelNational Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Timothy J VeceDepartment of Pediatrics, University of North Carolina, Chapel Hill, NC.
Maimoona A ZariwalaDepartment of Pediatrics, University of North Carolina, Chapel Hill, NC; Marsico Lung Institute, University of North Carolina, Chapel Hill, NC.
Michael R KnowlesDepartment of Medicine, University of North Carolina, Chapel Hill, NC; Marsico Lung Institute, University of North Carolina, Chapel Hill, NC.
Margaret W LeighDepartment of Pediatrics, University of North Carolina, Chapel Hill, NC.
Stephanie D DavisDepartment of Pediatrics, University of North Carolina, Chapel Hill, NC.
Thomas W FerkolDepartment of Pediatrics, University of North Carolina, Chapel Hill, NC.

Funding

The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso, Michael Wagner · 2019 to 2026
$51.2M
Colorado Clinical and Translational Sciences Institute (CCTSI)UM1TR004399 · NCATS · UNIVERSITY OF COLORADO DENVER · PI JANINE A HIGGINS, RONALD J. SOKOL · 2023 to 2026
$30.7M
Vector CoreP30DK065988 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Scott H Randell · 2004 to 2026
$26.5M
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary DyskinesiaU54HL096458 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI OLIVIER, KENNETH N. · 2009 to 2023
$20.0M
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8M
Pathogenesis of PCD Lung DiseaseR01HL071798 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KNOWLES, MICHAEL R · 2004 to 2021
$7.2M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
NCATS NIH HHS U2C TR002818NCATS NIH HHS UM1 TR004399NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NHLBI NIH HHS R01 HL071798NHLBI NIH HHS U54 HL096458NIDDK NIH HHS P30 DK065988
6 · The paper itself

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.

Indexed as

Ciliary Motility DisordersAdolescentChildChild, PreschoolClass I Phosphatidylinositol 3-KinasesFemaleHumansMalePhenotypePrimary Immunodeficiency DiseasesYoung AdultClass I Phosphatidylinositol 3-Kinasesactivated PI3K delta syndromeAPDS1nasal nitric oxidePIK3CDprimary ciliary dyskinesia

Identifiers

PMID39922272
PMCPMC12351481

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.