ArticlemedRxiv : the preprint server for health sciences2026
Inherited human TFIIIA deficiency disrupts T cell development.
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Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
46 authors.
Evi DuthooPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.ORCID 0000-0002-9680-1341
Sueun ParkPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.ORCID 0009-0000-5392-6593
Tamara JaraysehPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.ORCID 0000-0002-7403-4938
Marita BosticardoLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, USA.ORCID 0000-0002-1771-4523
Rafah MackehLaboratory of Immune Dysregulation, Research Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0003-3648-2198
Yana Van DroogenbroeckBelgium Cancer Research Institute Ghent (CRIG), Ghent University Hospital, Ghent, Belgium.ORCID 0009-0003-2184-2813
Imke VelgheBelgium Cancer Research Institute Ghent (CRIG), Ghent University Hospital, Ghent, Belgium.ORCID 0009-0003-9798-9272
Veronique DebackerPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.ORCID 0000-0002-6525-9422
Hailun LiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Nourhen AgrebiLaboratory of Immune Dysregulation, Research Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0001-5703-9668
Francesca PalaLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, USA.ORCID 0000-0003-4537-9061
Sarah GhistelinckPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.
Julie BraetBelgium Cancer Research Institute Ghent (CRIG), Ghent University Hospital, Ghent, Belgium.ORCID 0000-0002-4334-5610
Sandra Van LintBelgium Cancer Research Institute Ghent (CRIG), Ghent University Hospital, Ghent, Belgium.ORCID 0000-0001-9767-5386
Lukas PietersPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.ORCID 0009-0004-6946-1793
Martin WateletPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.
Hajar BesbassiCentre for Health Economics Research & Modeling Infectious Diseases (CHERMID), Vaccine & Infectious Disease Institute (VAXINFECTIO), University of Antwerp, Antwerp, Belgium.ORCID 0000-0001-6312-8042
Leslie NaesensPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.ORCID 0000-0003-1715-0665
Tessa KerreCenter for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, ERN-RITA center, Ghent University Hospital, Ghent, Belgium.ORCID 0000-0003-2114-2844
Delfien BogaertNational Children's Cancer Service, Children's Health Ireland at Crumlin, Dublin, Ireland.
Hye Sun KuehnImmunology Service, Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health (NIH), Bethesda, USA.ORCID 0000-0002-2154-3966
Sergio D RosenzweigImmunology Service, Department of Laboratory Medicine, NIH Clinical Center, National Institutes of Health (NIH), Bethesda, USA.ORCID 0000-0002-5550-9678
Emmanuelle JouanguyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7358-9157
Ottavia M DelmonteLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, USA.ORCID 0000-0002-4772-0799
Ivan K ChinnDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5684-5457
Stephen HughesRoyal Manchester Children's Hospital, Manchester, Great Britain.ORCID 0000-0001-5077-9065
Amel HassanPediatric Allergy and Immunology Department, Sidra Medicine, Doha, Qatar.
Mohammed Y KarimHematology, Immunology and Transfusion Division, Sidra Medicine, Doha, Qatar; College of Medicine, Qatar University, Doha, Qatar.ORCID 0000-0003-0912-1629
Asha ElmiLaboratory of Immune Dysregulation, Research Branch, Sidra Medicine, Doha, Qatar.ORCID 0009-0002-4585-5718
Giuliana GiardinoDepartment of Translational Medical Sciences, Pediatric Section, Federico II University, Naples, Italy.ORCID 0000-0002-0621-9527
Claudio PignataDepartment of Translational Medical Sciences, Pediatric Section, Federico II University, Naples, Italy.ORCID 0000-0003-1568-9843
Bénédicte NevenImagine Institute, Inserm U1163, University of Paris Cité, Paris, France.ORCID 0000-0001-8941-0935
Benson OgunjimiCentre for Health Economics Research & Modeling Infectious Diseases (CHERMID), Vaccine & Infectious Disease Institute (VAXINFECTIO), University of Antwerp, Antwerp, Belgium.ORCID 0000-0002-0831-2063
Karim VermaelenBelgium Cancer Research Institute Ghent (CRIG), Ghent University Hospital, Ghent, Belgium.ORCID 0000-0002-6787-8577
Denis L J LafontaineRNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, Gosselies, Belgium.ORCID 0000-0001-7295-6288
Mirjam van der BurgLaboratory for Pediatric Immunology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.ORCID 0000-0002-1510-3104
Anne PuelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-2603-0323
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-2822-161X
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7782-4169
Bernice LoLaboratory of Immune Dysregulation, Research Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-1087-6845
Patrick SipsDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.ORCID 0000-0001-9241-5980
Tom TaghonBelgium Cancer Research Institute Ghent (CRIG), Ghent University Hospital, Ghent, Belgium.ORCID 0000-0002-5781-0288
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, USA.ORCID 0000-0002-8335-0262
Simon J TavernierPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.ORCID 0000-0003-2514-5655
Filomeen HaerynckPrimary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.ORCID 0000-0001-9161-7361
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MNCATS NIH HHS UL1 TR001866NIAID NIH HHS R01 AI095983
Abstract
Molecular characterization of human monogenic inborn errors of T cell immunity provides both biological insights and medical progress. We report rare biallelic deleterious variants in
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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.