Evidence map›Paper›PMID 39215781›Full record

ArticleJournal of clinical immunology2024

Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia.

Sarah S Mehta, Wash U./N. I. H. EXTL3 Consortium, Marita Bosticardo, Luigi D Notarangelo, Maleewan Kitcharoensakkul

Abstract readLetterCase Reports
In one paragraph

Article in Journal of clinical immunology, 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. Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025
    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

5 authors.

Sarah S MehtaDepartment of Pediatrics, Washington University in Saint Louis, 660 S. Euclid, Campus Box 8116, Saint Louis, MO, 63110, USA.
Wash U./N. I. H. EXTL3 Consortium
Marita BosticardoLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-1771-4523
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.ORCID 0000-0002-8335-0262
Maleewan KitcharoensakkulDepartment of Pediatrics, Washington University in Saint Louis, 660 S. Euclid, Campus Box 8116, Saint Louis, MO, 63110, USA. maleewan@wustl.edu.ORCID 0000-0002-1080-4681

Funding

Characterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2M
Intramural NIH HHS ZIA AI001222NHLBI NIH HHS AI001222
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

N-AcetylglucosaminyltransferasesOsteochondrodysplasiasFemaleGenetic Predisposition to DiseaseHumansMaleMutationN-AcetylglucosaminyltransferasesATOEXTL3Omenn syndromeSCID

Identifiers

PMID39215781
PMCPMC12035741

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.