ArticleThe Journal of experimental medicine2017
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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 48 papers.
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48citing papers in PubMed
4.3field-weighted citation impact, top 5% of its field
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Who cites it
48 citing papers in PubMed, 83 citations in OpenAlex.
- Heparan Sulfate Proteoglycans in Immunity.Proteoglycan research · 2026Article
- Unraveling the genetic links between stature and disease in East Asians: A multi-biobank genetic correlation and risk prediction study.PLoS genetics · 2026Article
- Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.Molecular syndromology · 2026Review
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Glycosylation Pathways Targeted by Deregulated miRNAs in Autism Spectrum Disorder.International journal of molecular sciences · 2025Article
- Characterization of Freshly Isolated Human Peripheral Blood B Cells, Monocytes, CD4+ and CD8+ T Cells, and Skin Mast Cells by Quantitative Transcriptomics.International journal of molecular sciences · 2024Article
- Rediscovering the human thymus through cutting-edge technologies.The Journal of experimental medicine · 2024Review
- Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia.Journal of clinical immunology · 2024Article
- Review
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Congenital disorders of glycosylation (CDG): state of the art in 2022.Orphanet journal of rare diseases · 2023Review
- Generation of functional thymic organoids from human pluripotent stem cells.Stem cell reports · 2023Article
- Zebrafish: A Relevant Genetic Model for Human Primary Immunodeficiency (PID) Disorders?International journal of molecular sciences · 2023Review
- Human thymus in health and disease: Recent advances in diagnosis and biology.Seminars in immunology · 2023Review
- Inborn errors of immunity associated with defects of thymic development.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022Review
- EXTL3 could serve as a potential biomarker of prognosis and immunotherapy for prostate cancer and its potential mechanisms.European journal of medical research · 2022Article
- SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.Human genetics · 2022Article
- The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis.Nature communications · 2022Article
- An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report.BMC pediatrics · 2022Review
Corrections and comments
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Authors and funding
39 authors at 15 institutions in 5 countries.
Stefano VolpiUnita' Operativa Pediatria 2, Istituto Giannina Gaslini, 16148 Genoa, Italy.ORCID 0000-0002-7129-868X
Yasuhiro YamazakiLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892.
Patrick M BrauerDepartment of Immunology, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario M5S, Canada.
Ellen van RooijenStem Cell Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Atsuko HayashidaDivision of Respiratory Diseases, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Anne SlavotinekDepartment of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143.
Hye Sun KuehnDepartment of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD, 20892.
Maja Di RoccoUnit of Rare Diseases, Department of Pediatrics, Istituto Giannina Gaslini, 16148 Genoa, Italy.
Carlo RivoltaDepartment of Computational Biology, Unit of Medical Genetics, University of Lausanne, 1015 Lausanne, Switzerland.ORCID 0000-0002-0733-9950
Ileana BortolomaiSan Raffaele Telethon Institute for Gene Therapy, Istituto di Ricerca e Cura a Carattere Scientifico San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0002-2592-1274
Likun DuDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Kerstin FelgentreffDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Lisa Ott de BruinDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Kazutaka HayashidaDivision of Respiratory Diseases, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
George FreedmanDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA 94143.
Genni Enza MarcovecchioSan Raffaele Telethon Institute for Gene Therapy, Istituto di Ricerca e Cura a Carattere Scientifico San Raffaele Scientific Institute, 20132 Milan, Italy.ORCID 0000-0002-4994-1595
Kelly CapuderDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.ORCID 0000-0001-5732-6405
Prisni RathTata Consultancy Services Innovation Labs, Telangana 500081, India.ORCID 0000-0002-6080-6079
Nicole LucheDivision of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.ORCID 0000-0003-2571-0984
Elliott J HagedornStem Cell Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Antonella BuoncompagniUnita' Operativa Pediatria 2, Istituto Giannina Gaslini, 16148 Genoa, Italy.
Beryl Royer-BertrandDepartment of Computational Biology, Unit of Medical Genetics, University of Lausanne, 1015 Lausanne, Switzerland.
Silvia GilianiA. Nocivelli Institute for Molecular Medicine, University of Brescia, 25123 Brescia, Italy.ORCID 0000-0001-8137-4642
Pietro Luigi PolianiDepartment of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Luisa ImbertiCentro di ricerca emato-oncologica AIL, Spedali Civili, 25123 Brescia, Italy.
Kerry DobbsLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892.ORCID 0000-0002-3432-3137
Fabienne E PoulainDepartment of Biological Sciences, University of South Carolina, Columbia, SC 29208.ORCID 0000-0002-7867-748X
Alberto MartiniUnita' Operativa Pediatria 2, Istituto Giannina Gaslini, 16148 Genoa, Italy.ORCID 0000-0001-7642-1459
John ManisDepartment of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.
Robert J LinhardtDepartment of Chemistry and Chemical Biology, Rensselaer Polytechnic Institute, Troy, NY 12180.
Marita BosticardoSan Raffaele Telethon Institute for Gene Therapy, Istituto di Ricerca e Cura a Carattere Scientifico San Raffaele Scientific Institute, 20132 Milan, Italy.
Sergio Damian RosenzweigDepartment of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD, 20892.
Hane LeeDepartment of Pathology and Laboratory Medicine, University of California at Los Angeles, Los Angeles, CA 90095.
Jennifer M PuckDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA 94143.ORCID 0000-0001-6623-6276
Juan Carlos Zúñiga-PflückerDepartment of Immunology, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario M5S, Canada.ORCID 0000-0003-2538-3178
Leonard ZonStem Cell Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.ORCID 0000-0003-0860-926X
Pyong Woo ParkDivision of Respiratory Diseases, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.ORCID 0000-0002-7979-4979
Andrea Superti-FurgaDivision of Genetic Medicine, Lausanne University Hospital, University of Lausanne, 1015 Lausanne, Switzerland luigi.notarangelo2@nih.gov asuperti@unil.ch.ORCID 0000-0002-3543-7531
Luigi D NotarangeloLaboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892 luigi.notarangelo2@nih.gov asuperti@unil.ch.ORCID 0000-0002-8335-0262
Boston Children's Hospital · USIstituto Giannina Gaslini · ITNational Institutes of Health · USUniversity of California, San Francisco · USUniversity of Lausanne · CHNational Institutes of Health Clinical Center · USSunnybrook Health Science Centre · CAThe San Raffaele Telethon Institute for Gene Therapy · ITUniversity of Brescia · ITAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITInstitute of Genetic and Biomedical Research · ITRensselaer Polytechnic Institute · USTata Consultancy Services (India) · INUniversity of California, Los Angeles · USUniversity of South Carolina · US
Funding
Studies of Inherited Causes of Fungal SusceptabilityZIAAI001122 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI ROSENZWEIG, SERGIO · 2010 to 2025
$26.0MCharacterization 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
$15.2MStem cells for therapeutics discovery in genetic blood disordersU01HL134812 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI DALEY, GEORGE Q, LIPTON, JEFFREY M · 2016 to 2022
$8.3MEMBRYONIC HEMATOPOIESISR01HL048801 · NHLBI · CHILDREN'S HOSPITAL BOSTON · PI ZON, LEONARD IRA · 1992 to 2016
$5.7MModeling and correcting human SCID using patient-derived iPS cellsR01AI100887 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI MANIS, JOHN P · 2012 to 2020
$4.5MFunctions of Heparan Sulfate Proteoglycans in Axon Guidance and Degeneration.R00NS083714 · NINDS · UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA · PI POULAIN, FABIENNE EMMANUELLE · 2015 to 2017
$746kCharacterization of a novel combined immunodeficiency with skeletal dysplasiaR21AI113459 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI NOTARANGELO, LUIGI DANIELE · 2015 to 2016
$486kMutation Analysis Of Selected Lymphoid Immune DisordersZIACL010304 · CLC · CLINICAL CENTER · PI ROSENZWEIG, SERGIO · 2009 to 2025
$0kNHLBI NIH HHS R01 HL048801NHLBI NIH HHS U01 HL134812NIAID NIH HHS R01 AI100887NIAID NIH HHS R21 AI113459NINDS NIH HHS R00 NS083714
Abstract
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was rescued by overexpression of wild-type
Indexed as
MutationAnimalsBone Diseases, DevelopmentalChild, PreschoolDevelopmental DisabilitiesFemaleHeparan SulfateHumansImmunologic Deficiency SyndromesInduced Pluripotent Stem CellsInfantLymphocytesN-AcetylglucosaminyltransferasesZebrafishEXTL3 protein, humanHeparan SulfateN-Acetylglucosaminyltransferases
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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.