Evidence map›Paper›PMID 39822469›Full record

ArticleCureus2024

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.

Gabriela Krasnanska, Gabriela Blandova, Marian Baldovic, Maria Andrejkova, Michal Konecny

Abstract readCase Reports
In one paragraph

Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Gabriela KrasnanskaDepartment of Biology, Institute of Biology and Biotechnology, Faculty of Natural Sciences, University of St. Cyril and Methodius, Trnava, SVK.
Gabriela BlandovaLaboratory of Genomic Medicine, GHC GENETICS SK, Comenius University Science Park, Bratislava, SVK.
Marian BaldovicLaboratory of Genomic Medicine, GHC GENETICS SK, Comenius University Science Park, Bratislava, SVK.
Maria AndrejkovaDepartment of Paediatrics, Faculty of Medicine, Pavol Jozef Safarik University and Children's Faculty Hospital, Centre for Inborn Errors of Immunity and Clinical Genomics, Kosice, SVK.
Michal KonecnyLaboratory of Genomic Medicine, GHC GENETICS SK, Comenius University Science Park, Bratislava, SVK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked severe combined immunodeficiency disease (X-SCID) is a form of inborn errors of immunity (IEI) associated with causal DNA variants of the

Indexed as

il2rg geneinborn errors of immunityinterleukin 2 gamma receptorwesx-scid

Identifiers

PMID39822469
PMCPMC11737466

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.