Evidence map›Paper›PMID 39228435›Full record

ArticleFrontiers in pediatrics2024

Case Report: p40

Alejandro Nieto-Patlán, Natalia S Fernández Dávila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry, James R Lupski, Steven M Holland, Bo Yuan, Douglas B Kuhns and 2 more

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

Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

12 authors.

Alejandro Nieto-Patlán *Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
Natalia S Fernández Dávila *Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
Yuqing WangDepartment of Integrative Physiology, Baylor College of Medicine, Houston, TX, United States.
Michelle ZelnickDivision of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
Eyal MuscalDivision of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
Martha CurryDivision of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Steven M HollandLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, United States.
Bo YuanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.
Douglas B KuhnsNeutrophil Monitoring Laboratory, Clinical Services Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Tiphanie P Vogel *Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
Ivan K Chinn *Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Systemic lupus erythematosus is a multi-faceted autoimmune disorder of complex etiology. Pre-pubertal onset of pediatric systemic lupus erythematosus (pSLE) is uncommon and should raise suspicion for a genetic driver of disease. Autosomal recessive p40 Case presentation: We report the case of a now 18-year-old female with pSLE onset at 7 years of age. She presented with recurrent fever and malar rash. Aspects of her immune dysregulation over time have included typical pSLE features including production of autoantibodies, hematologic manifestations, and hypocomplementemia, as well as chronic suppurative skin lesions and recurrent infections. Genetic analysis revealed biallelic pathogenic variants in Conclusions: Here, we present a patient with pSLE harboring biallelic variants in

Indexed as

inborn error of immunityNADPH oxidase complexNCF4p40phox deficiencypediatric SLEreactive oxygen speciessystemic lupus erythematosus

Identifiers

PMID39228435
PMCPMC11368735

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.