Evidence map›Paper›PMID 30309848›Full record

ArticleHaematologica2019

Selective loss of function variants in

Tala Shahin, Dominik Aschenbrenner, Deniz Cagdas, Sevgi Köstel Bal, Cecilia Domínguez Conde, Wojciech Garncarz, David Medgyesi, Tobias Schwerd, Betül Karaatmaca, Pınar Gur Cetinkaya and 7 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Haematologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
3.7field-weighted citation impact, top 6% 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

45 citing papers in PubMed, 93 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Dermatologic presentations of hyper IgE syndrome in pediatric patients.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025
    Review
  6. Review
  7. Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025
    Review
  8. The genetics of hyper IgE syndromes.Frontiers in immunology · 2025
    Review
  9. Article
  10. Article
  11. Review
  12. Review
  13. La Tunisie medicale · 2023
    Article
  14. Article
  15. ERBIN and phosphoglucomutase 3 deficiency.Current opinion in immunology · 2023
    Review
  16. Article
  17. Article
  18. Review
  19. Review
  20. Inherited human ZNF341 deficiency.Current opinion in immunology · 2023
    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

17 authors at 10 institutions in 4 countries.

Tala ShahinLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Dominik AschenbrennerTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, UK.
Deniz CagdasSection of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.
Sevgi Köstel BalLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Cecilia Domínguez CondeLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Wojciech GarncarzLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
David MedgyesiLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Tobias SchwerdTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, UK.
Betül KaraatmacaSection of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.
Pınar Gur CetinkayaSection of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.
Saliha EsenbogaSection of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.
Stephen R F TwiggClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK.
Andrew CantInstitute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.
Andrew O M WilkieClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK.
Ilhan TezcanSection of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.
Holm H UhligTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, UK kaan.boztug@rud.lbg.ac.at holm.uhlig@ndm.ox.ac.uk.
Kaan BoztugLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria kaan.boztug@rud.lbg.ac.at holm.uhlig@ndm.ox.ac.uk.
Hacettepe University Hospital · TRAustrian Academy of Sciences · ATLudwig Boltzmann Institute for Rare and Undiagnosed Diseases · ATUniversity of Oxford · GBCeMM Research Center for Molecular Medicine · ATHacettepe University · TRJohn Radcliffe Hospital · GBLudwig-Maximilians-Universität München · DEMRC Weatherall Institute of Molecular Medicine · GBNewcastle University · GB

Funding

Austrian Science Fund FWF P 29951European Research Council 310857Wellcome Trust 102731/Z/13/Z
6 · The paper itself

Abstract

Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic mutation in

Indexed as

Loss of Function MutationBiomarkersCell DifferentiationChildChild, PreschoolCytokine Receptor gp130Disease SusceptibilityDNA Mutational AnalysisGenetic Association StudiesHumansImmunophenotypingJob SyndromeLymphocyte ActivationMaleModels, MolecularPedigreeBiomarkersCytokine Receptor gp130IL6ST protein, human

Identifiers

PMID30309848
PMCPMC6395342
OpenAlexW2897613262

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.