ArticleThe Journal of experimental medicine2017
A biallelic mutation in
Open access · hybridAbstract read
In one paragraph
Article in The Journal of experimental medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
109citing papers in PubMed, 1 pooled it
6.4field-weighted citation impact, top 3% of its field
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.
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.
Who cites it
109 citing papers in PubMed, 1 synthesis or guideline pooled it, 196 citations in OpenAlex.
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes · 2023Pooled it
- Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome.The Journal of clinical investigation · 2020Trial
- Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy.Journal of human immunity · 2026Article
- Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: Single-center cohort analysis.The Journal of allergy and clinical immunology · 2026Observational
- Human germline biallelic loss-of-functionJournal of human immunity · 2026Article
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.Journal of human immunity · 2026Article
- A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.Journal of clinical immunology · 2026Article
- The role of IL-11 in chronic diseases.Frontiers in immunology · 2026Review
- T cells in Group AFrontiers in cellular and infection microbiology · 2026Review
- Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.JCI insight · 2025Article
- Pathological IgE Production in Inborn Errors of Immunity and Beyond.Immunological reviews · 2025Review
- 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 · 2025Review
- Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review.Current opinion in allergy and clinical immunology · 2025Review
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Atopic dermatitis, primary atopic disorders, and the cutaneous microbiome: current understanding of an expanding field.Frontiers in pediatrics · 2025Review
- Cytokine signaling defects in primary atopic diseases-an updated review.Frontiers in allergy · 2025Review
- Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025Review
- DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome.Clinical immunology (Orlando, Fla.) · 2024Article
49 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 9 institutions in 3 countries.
Tobias SchwerdTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.ORCID http://orcid.org/0000-0002-2281-4852
Stephen R F TwiggClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.ORCID http://orcid.org/0000-0001-5024-049X
Dominik AschenbrennerTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.
Santiago ManriqueDivision of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, England, UK.
Kerry A MillerClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.ORCID http://orcid.org/0000-0003-2278-155X
Indira B TaylorClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.
Melania CapitaniTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.
Simon J McGowanComputational Biology Research Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.ORCID http://orcid.org/0000-0001-9720-1914
Elizabeth SweeneyDepartment of Clinical Genetics, Liverpool Women's National Health Service Foundation Trust, Liverpool, England, UK.
Astrid WeberDepartment of Clinical Genetics, Liverpool Women's National Health Service Foundation Trust, Liverpool, England, UK.
Liye ChenNuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Sciences, University of Oxford, Oxford, England, UK.
Paul BownessNuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Sciences, University of Oxford, Oxford, England, UK.ORCID http://orcid.org/0000-0003-4597-0484
Andrew RiordanDepartment of Paediatric Infectious Diseases and Immunology, Alder Hey Children's National Health Service Foundation Trust, Liverpool, England, UK.
Andrew CantInstitute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, England, UK.
Alexandra F FreemanLaboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID http://orcid.org/0000-0001-7005-8345
Joshua D MilnerLaboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID http://orcid.org/0000-0002-3913-3869
Steven M HollandLaboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Natalie FredeCenter for Chronic Immunodeficiency, Universitätsklinikum Freiburg, Freiburg, Germany.
Miryam MüllerInflammation and Cancer Lab, Institute of Biochemistry, Christian-Albrechts-University Kiel, Kiel, Germany.
Dirk Schmidt-ArrasInflammation and Cancer Lab, Institute of Biochemistry, Christian-Albrechts-University Kiel, Kiel, Germany.ORCID http://orcid.org/0000-0002-1072-7495
Bodo GrimbacherCenter for Chronic Immunodeficiency, Universitätsklinikum Freiburg, Freiburg, Germany.
Steven A WallCraniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals National Health Service Foundation Trust, John Radcliffe Hospital, University of Oxford, Oxford, England, UK.
E Yvonne JonesDivision of Structural Biology, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, England, UK.ORCID http://orcid.org/0000-0002-3834-1893
Andrew O M WilkieClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, England, UK andrew.wilkie@imm.ox.ac.uk.ORCID http://orcid.org/0000-0002-2972-5481
Holm H UhligTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, England, UK holm.uhlig@ndm.ox.ac.uk.ORCID http://orcid.org/0000-0002-6111-7355
John Radcliffe Hospital · GBNational Health Service · GBNational Institutes of Health · USCentre for Human Genetics · GBChristian-Albrechts-Universität zu Kiel · DENuffield Orthopaedic Centre · GBNewcastle University · GBThe Royal Free Hospital · GBUniversity Medical Center Freiburg · DE
Funding
Genetic and Pathophysiologic Study of Atopic DiseaseZIAAI001183 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MILNER, JOSHUA · 2013 to 2019
$8.7MWellcome Trust 093329Wellcome Trust 102731Wellcome Trust 102731/Z/13/Z
Abstract
Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation of
Indexed as
Child, PreschoolCraniosynostosesCytokine Receptor gp130ExomeFemaleHumansImmunologic Deficiency SyndromesInterleukin-11Interleukin-6InterleukinsMutation, MissenseCytokine Receptor gp130IL11 protein, humanIL6ST protein, humanInterleukin-11Interleukin-6InterleukinsMYDGF protein, human
Identifiers
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.