Evidence map›Paper›PMID 38115997›Full record

ArticleFrontiers in immunology2023

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.

Alice Burleigh, Elena Moraitis, Eman Al Masroori, Eslam Al-Abadi, Ying Hong, Ebun Omoyinmi, Hannah Titheradge, Karen Stals, Wendy D Jones, Anthony Gait and 12 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.0field-weighted citation impact, top 22% 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

9 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Review
  6. When ISG15 is involved in inflammation.Frontiers in immunology · 2026
    Review
  7. Review
  8. Article
  9. 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

22 authors at 7 institutions in 1 country.

Alice BurleighInfection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Elena MoraitisPaediatric Rheumatology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Eman Al MasrooriDepartment of Rheumatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
Eslam Al-AbadiDepartment of Rheumatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
Ying HongInfection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Ebun OmoyinmiInfection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Hannah TitheradgeClinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
Karen StalsExeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
Wendy D JonesClinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Anthony GaitClinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Vignesh JayarajanMolecular and Cellular Immunology Unit, University College London (UCL), Great Ormond Street Institute of Child Health, London, United Kingdom.
Wei-Li DiMolecular and Cellular Immunology Unit, University College London (UCL), Great Ormond Street Institute of Child Health, London, United Kingdom.
Neil SebireHistopathology Department, Camelia Botnar Laboratories, Great Ormond Street Hospital, London, United Kingdom.
Lea SolmanDepartment of Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Malobi OgboliDepartment of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
Steven B WelchDepartment of Paediatrics, Heartlands Hospital, University Hospitals Birmingham, Birmingham, United Kingdom.
Annapurna SudarsanamDepartment of Paediatric Neurology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
Ian WacogneDepartment of General Paediatrics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
Fiona Price-KuehneInfection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Barbara JensenInfection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Paul A Brogan *Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Despina Eleftheriou *Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
Birmingham Women’s and Children’s NHS Foundation Trust · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBUniversity College London · GBGreat Ormond Street Hospital · GBVersus Arthritis · GBHeartlands Hospital · GBRoyal Devon & Exeter NHS Foundation Trust · GB

Funding

Medical Research Council MR/S036989/1Versus Arthritis 21791
6 · The paper itself

Abstract

ISG15 deficiency is a rare disease caused by autosomal recessive variants in the

Indexed as

CytokinesUbiquitinsHumansInterferonsUbiquitin ThiolesteraseCytokinesInterferonsISG15 protein, humanUbiquitinsUbiquitin ThiolesteraseUSP18 protein, humanbaricitinibinterferoninterferonopathyISG15ISG15 deficiencyJanus kinase inhibitionmicrodeletionwhole exome sequencing

Identifiers

PMID38115997
PMCPMC10728638
OpenAlexW4389345783

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.