Evidence map›Paper›PMID 38598033›Full record

ArticleJournal of clinical immunology2024

Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.

Christo Tsilifis, Jarmila Stremenova Spegarova, Ross Good, Helen Griffin, Karin R Engelhardt, Sophie Graham, Stephen Hughes, Peter D Arkwright, Sophie Hambleton, Andrew R Gennery

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 31% of its field
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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

10 authors at 3 institutions in 1 country.

Christo TsilifisPaediatric Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Victoria Wing, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1 4LP, UK.
Jarmila Stremenova SpegarovaTranslational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK.
Ross GoodTranslational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK.
Helen GriffinTranslational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK.
Karin R EngelhardtTranslational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK.
Sophie GrahamFaculty of Medical Sciences, Medical School, Newcastle University, Newcastle Upon Tyne, UK.
Stephen HughesLydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, UK.
Peter D ArkwrightLydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, UK.
Sophie HambletonPaediatric Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Victoria Wing, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1 4LP, UK.
Andrew R GenneryPaediatric Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Victoria Wing, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1 4LP, UK. andrew.gennery@newcastle.ac.uk.
Newcastle University · GBGreat North Children's Hospital · GBUniversity of Manchester · GB

Funding

Wellcome TrustWellcome Trust 207556_Z_17_Z
6 · The paper itself

Abstract

Biallelic null or hypomorphic variants in JAK3 cause SCID and less frequently Omenn syndrome. We investigated homozygous hypomorphic JAK3 mutations in two patients, and expression and function of a novel JAK3

Indexed as

Janus Kinase 3Severe Combined ImmunodeficiencyHumansInfantInterleukin-15Interleukin-2Interleukin-7Leukocytes, MononuclearInterleukin-15Interleukin-2Interleukin-7JAK3 protein, humanJanus Kinase 3Haematopoietic stem cell transplantJanus kinase 3Omenn syndromeSevere combined immunodeficiency

Identifiers

PMID38598033
PMCPMC11006754
OpenAlexW4394688440

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.