Evidence map›Paper›PMID 40934010›Full record

ArticleFrontiers in immunology2025

Reliable genetic diagnosis of

Amy P Hsu, Eric Karlins, Justin Lack, T Joseph Pepper, Karen Lau, Kimberly R Marshall-Batty, Debra Long Priel, Joie Davis, Danielle L Fink, Christa S Zerbe and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 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. Article
  2. How I Treat: Chronic granulomatous disease.Journal of human immunity · 2026
    Review
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

14 authors.

Amy P HsuImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, United States.
Eric KarlinsBioinformatics and Computational Biosciences, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.
Justin LackNational Institute of Allergy and Infectious Diseases (NIAID) Collaborative Bioinformatics Resource, National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health (NIH), Bethesda, MD, United States.
T Joseph PepperDepartment of Mathematics, University of Maryland College Park, College, Park, MD, United States.
Karen LauNeutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Kimberly R Marshall-BattyNeutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Debra Long PrielNeutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Joie DavisImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, United States.
Danielle L FinkNeutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Christa S ZerbeImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, United States.
John I GallinLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, United States.
Harry L MalechGenetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, United States.
Steven M HollandImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD, United States.
Douglas B KuhnsNeutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Chronic granulomatous disease is caused by mutations in any of the 6 components of the phagocytic NADPH oxidase complex including gp91 Methods: We developed a bioinformatic method using existing short or long-read sequencing data from 48 NCF1-CGD patients or carriers. Results: We identified both ΔGT and non-ΔGT Discussion: With this method, reanalysis of existing sequence data may provide genetic diagnosis to NCF1-CGD patients. This technique may be modified for other diagnostically relevant pseudogenes.

Indexed as

Granulomatous Disease, ChronicHigh-Throughput Nucleotide SequencingNADPH OxidasesComputational BiologyFemaleGenetic TestingHumansMaleMutationPseudogenesNADPH Oxidasesneutrophil cytosolic factor 1CGDchronic granulomatous disease (CGD)genetic diagnosisNCF1NGSONT long read sequencingpseudogene

Identifiers

PMID40934010
PMCPMC12418599

What OpenQuestion holds

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Registered trials

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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.