ArticleScience translational medicine2024
A deep intronic splice-altering
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Article in Science translational medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10citing papers in PubMed
–field-weighted citation impact
What it found
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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.
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Who cites it
10 citing papers in PubMed.
- Performance of expanded diagnostic criteria for APECED in independent cohorts and implications for earlier diagnosis.JCI insight · 2026Article
- Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort.Journal of clinical immunology · 2026Observational
- A novel JAK1 variant in chronic eosinophilic leukaemia with response to benralizumab.British journal of haematology · 2026Article
- X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.BMC pediatrics · 2026Article
- Multimerizing transcription factors FOXP3 and AIRE as chromatin architectural regulators.Nature immunology · 2026Review
- Selective JAK Inhibition Reveals Paradoxical and Hierarchical Control of interferon-γ-driven Autoimmunity in AIRE Deficiency.bioRxiv : the preprint server for biology · 2026Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Uncovering ASO-Targetable Deep IntronicDNA and cell biology · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors.
Sebastian OchoaLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0001-6334-110X
Amy P HsuLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0001-6841-2122
Andrew J OlerBioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-6310-0434
Dhaneshwar KumarImmunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-3307-3065
Daniel ChaussImmunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-8343-0860
Jan Piet van HamburgDepartments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands.ORCID 0000-0002-6760-4648
Gustaaf G van LaarDepartments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands.ORCID 0000-0002-3065-1002
Vasileios OikonomouLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0002-7553-0159
Sundar GanesanBiological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD 20892, USA.
Elise M N FerréLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0002-3285-7768
Monica M SchmittLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
Tom DiMaggioLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0002-3051-5553
Princess BarberLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0009-0004-4921-7697
Gregory M ConstantineLaboratory of Parasitic Diseases, NIAID, NIH, Bethesda, MD 20892, USA.ORCID 0000-0001-5379-9475
Lindsey B RosenLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0001-5894-3878
Paul G AuwaerterSherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0002-8273-9057
Bhumika GandhiDivision of Internal Medicine-Pediatrics, Department of Medicine, Medstar Georgetown University Hospital, Washington, DC 20007, USA.ORCID 0009-0009-3025-5104
Jennifer L MillerDivision of Pediatric Endocrinology, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0002-5207-8091
Rachel EisenbergDivision of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA.
Arye RubinsteinDivision of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA.
Edith SchusslerDivision of Pulmonary, Allergy, and Immunology, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10065, USA.ORCID 0009-0000-9492-3073
Erjola BalliuDepartment of Endocrinology, Diabetes and Metabolism, Lakeland Regional Health Grasslands Campus, Lakeland, FL 33803, USA.ORCID 0009-0003-0740-3013
Vandana ShashiDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.ORCID 0000-0002-5011-7501
Olaf NethInborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, "Red de Investigación Translacional en Infectología Pediátrica," Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain.ORCID 0000-0001-5018-0466
Peter OlbrichInborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, "Red de Investigación Translacional en Infectología Pediátrica," Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain.ORCID 0000-0001-9853-7903
Kim My LeTranslational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.ORCID 0000-0001-8960-7164
Nanni MamiaPediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.ORCID 0009-0002-0562-1845
Saila LaaksoPediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.ORCID 0000-0002-5588-7855
Pasi I NevalainenJJP Biologics, Warsaw 00-728, Poland.ORCID 0000-0002-7397-6122
Juha GrönholmTranslational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.ORCID 0000-0002-4190-0000
Mikko R J SeppänenTranslational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.ORCID 0000-0001-9733-3650
Louis BoonJJP Biologics, Warsaw 00-728, Poland.ORCID 0000-0002-0937-9171
Gulbu UzelLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0009-0003-0700-694X
Luis M FrancoFunctional Immunogenomics Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-0540-5942
Theo HellerLiver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-2643-6289
Karen K WinerPediatric Growth and Nutrition Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.ORCID 0000-0001-8261-5188
Rajarshi GhoshCentralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA.
Bryce A SeifertCentralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA.ORCID 0000-0001-7970-3611
Magdalena WalkiewiczCentralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0002-8335-0262
Qing ZhouInflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Ivona AskentijevichInflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-6564-7214
William GahlMedical Genetics Branch, National Human Genome Research Institute, and NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.ORCID 0000-0002-2494-6752
Cliffton L DalgardDepartment of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.ORCID 0000-0003-2025-8239
Lalith PereraGenome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA.ORCID 0000-0003-0823-1631
Behdad AfzaliImmunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.ORCID 0000-0003-2968-1156
Sander W TasDepartments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands.
Steven M HollandLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0003-3207-5464
Michail S LionakisLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.ORCID 0000-0003-4994-9500
Funding
Characterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2MAn integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4MIntramural NIH HHS ZIA AI001222NHGRI NIH HHS U01 HG007672ODCDC CDC HHS U01 HG007672
Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-threatening monogenic autoimmune disorder primarily caused by biallelic deleterious variants in the autoimmune regulator (
Indexed as
AIRE ProteinExonsIntronsOligonucleotides, AntisensePolyendocrinopathies, AutoimmuneTranscription FactorsAdolescentAdultBase SequenceCell LineChildFemaleHumansMaleMutationPedigreeAIRE ProteinAIRE protein, humanOligonucleotides, AntisenseTranscription Factors
Identifiers
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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.