ArticleScience (New York, N.Y.)2024
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Open access · greenAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
8.9field-weighted citation impact, top 2% of its field
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
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Who cites it
25 citing papers in PubMed, 37 citations in OpenAlex.
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts.Journal of human immunity · 2026Article
- T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.Cell biochemistry and biophysics · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic.Journal of human immunity · 2026Article
- IRF4 haploinsufficiency in a multiplex family with Whipple's disease.Journal of human immunity · 2026Article
- The seven enigmas of SARS-CoV-2: from the past to the future.Journal of human immunity · 2025Article
- Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts.medRxiv : the preprint server for health sciences · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Single-cell transcriptomic profiling reveals distinct tumor microenvironments in HPV-associated penile squamous cell carcinoma.Precision clinical medicine · 2025Article
- A human NK cell progenitor that originates in the thymus and generates KIRScience advances · 2025Article
- Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions.Journal of clinical immunology · 2025Article
- Maturation of thymocytes with a monoclonal TCR under control of Trac promoter elements in the absence of β-selection.ImmunoHorizons · 2025Article
- Two different forms of inherited human TCRα chain deficiency.Journal of human immunity · 2025Article
- γδ T Cells and Inborn Errors of Immunity.European journal of immunology · 2025Review
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- Targeting T-cell Aging to Remodel the Aging Immune System and Revitalize Geriatric Immunotherapy.Aging and disease · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.The Journal of experimental medicine · 2025Article
- Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.NPJ genomic medicine · 2025Article
Corrections and comments
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Authors and funding
99 authors at 20 institutions in 13 countries.
Marie MaternaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-2145-5285
Ottavia M Delmonte *Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-4772-0799
Marita Bosticardo *Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-1771-4523
Mana Momenilandi *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-5340-2762
Peyton E Conrey *Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-7766-9878
Bénédicte Charmeteau-De Muylder *University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Clotilde Bravetti *Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.
Rebecca Bellworthy *Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.ORCID 0009-0002-5878-1527
Axel Cederholm *Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.ORCID 0009-0006-5973-9637
Frederik Staels *Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Christian A Ganoza *Centogene GmbH, Rostock, Germany.ORCID 0000-0002-5891-5372
Samuel Darko *Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9711-8122
Samir Sayed *Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-4981-5721
Corentin Le Floc'h *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0009-0007-0590-0437
Masato Ogishi *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0003-2421-7389
Darawan Rinchai *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-8851-7730
Andrea Guenoun *Department of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-4303-8653
Alexandre Bolze *Helix, San Mateo, CA, USA.ORCID 0000-0001-7399-2766
Taushif Khan *Department of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-7917-8965
Adrian Gervais *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-1083-5787
Renate KrügerDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Mirjam VöllerDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID 0000-0003-1696-8561
Boaz PaltererLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-2499-8250
Mahnaz Sadeghi-ShabestariImmunology Research Center, TB and Lung Disease Research Center, Mardaniazar Children Hospital, Tabriz University of Medical Science, Tabriz, Iran.ORCID 0000-0001-5356-3163
Anne Langlois de SeptenvilleDepartment of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.
Chaim A SchrammHuman Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Sanjana ShahHuman Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
John J Tello-CajiaoDivision of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-7927-9467
Francesca PalaLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-4537-9061
Kayla AminiLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0006-7911-1097
Jose S CamposDivision of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-3344-7733
Noemia Santana LimaHuman Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-4399-487X
Daniel ErikssonDepartment of Immunology, Genetics and Pathology, Uppsala University and University Hospital, Section of Clinical Genetics, Uppsala, Sweden.ORCID 0000-0001-5473-3312
Romain LévyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-6393-0198
Yoann SeeleuthnerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.
Soma JyonouchiDivision of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Manar AtaDepartment of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0001-7111-5719
Fatima Al AliDepartment of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0001-6451-7357
Anna StittrichLabor Berlin Charité-Vivantes GmbH, Department of Human Genetics, Berlin, Germany.ORCID 0000-0002-0500-0304
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-8775-3368
Anaïs PereiraLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-5821-5133
Jérôme MégretCytometry Core Facility, SFR Necker, INSERM US24-CNRS UAR3633, Paris, France.
Tom Le VoyerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-0630-8626
Paul BastardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-5926-8437
Laureline BertelootDepartment of Pediatric Radiology, University Hospital Necker-Enfants Malades, AP-HP, Paris, France.ORCID 0000-0001-9681-3142
Michaël DussiotImagine Institute, University of Paris-Cité, Paris, France.
Natasha VladikineLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.
Paula P CardenasDepartment of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.ORCID 0000-0001-9054-8130
Emmanuelle JouanguyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7358-9157
Mashael AlqahtaniDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Amal HasanDepartment of Translational Research, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.ORCID 0000-0002-1793-7794
Thangavel Alphonse ThanarajDepartment of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.ORCID 0000-0002-4574-5343
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-2822-161X
Fahd Al QureshahSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-5022-9917
Vito SabatoDepartment of Immunology, Allergology and Rheumatology, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
Marie Alexandra AlyanakianImmunology Laboratory, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Marianne Leruez-VilleNecker Hospital for Sick Children, AP-HP, Paris, France.ORCID 0000-0001-7513-7894
Flore RozenbergUniversity of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Elie HaddadDepartment of Pediatrics, Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, CHU Sainte-Justine, Montreal, QC, Canada.ORCID 0000-0003-2446-6879
Jose R RegueiroDepartment of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.ORCID 0000-0001-8442-7762
Maria L ToribioImmune System Development and Function Unit, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain.ORCID 0000-0002-8637-0373
Judith R KelsenDivision of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-0038-318X
Mansoor SalehiCellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.ORCID 0000-0002-6565-0907
Shahram NasiriDepartment of Pediatric Neurology, Children's Medical Center of Abuzar, Jundishapur University of Medical Sciences, Ahvaz, Iran.
Mehdi TorabizadehGolestan Hospital Clinical Research Development Unit, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Hassan Rokni-ZadehDepartment of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.ORCID 0000-0001-5503-0344
Majid Changi-AshtianiSchool of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.ORCID 0000-0001-6428-9323
Nasimeh VatandoostDepartment of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.ORCID 0000-0003-0189-7529
Hossein MoravejNeonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Seyed Mohammad AkramiMedical Genetics Poursina St., Genetic Department, Medical Faculty, Tehran University of Medical Sciences, Tehran, Iran.ORCID 0000-0003-0169-0202
Mohsen MazloomrezaeiDr. Shahrooei Laboratory, Tehran, Iran.ORCID 0000-0002-9296-9876
Aurélie CobatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-7209-6257
Isabelle MeytsLaboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.ORCID 0000-0003-1214-0302
Etsushi ToyofukuDepartment of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Madoka NishimuraDepartment of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.ORCID 0009-0007-6030-8567
Kunihiko MoriyaDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.ORCID 0000-0002-0418-5132
Tomoyuki MizukamiDepartment of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.ORCID 0000-0002-2508-2810
Kohsuke ImaiDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.ORCID 0000-0003-2132-8403
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-7016-6493
Bernard MalissenImmunology Center of Marseille-Luminy, Aix Marseille University, Inserm, CNRS, Marseille, France.ORCID 0000-0003-1340-9342
Fahd Al-MullaDepartment of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.ORCID 0000-0001-5409-3829
Fowzan Sami AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID 0000-0003-4158-341X
Nima ParvanehDivision of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-3397-9716
Horst von BernuthDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.ORCID 0000-0002-5812-7675
Christian BeetzCentogene GmbH, Rostock, Germany.
Frédéric DaviDepartment of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.
Daniel C Douek *Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Rémi Cheynier *University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.ORCID 0000-0003-1146-660X
David Langlais *Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.ORCID 0000-0003-4429-0110
Nils Landegren *Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Nico Marr *Department of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-1927-7072
Tomohiro Morio *Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.ORCID 0000-0002-9259-1025
Mohammad Shahrooei *Dr. Shahrooei Laboratory, Tehran, Iran.
Rik Schrijvers *Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.ORCID 0000-0002-4261-6220
Sarah E Henrickson *Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-5569-4132
Hervé Luche *Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.ORCID 0000-0003-4309-8338
Luigi D Notarangelo *Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-8335-0262
Jean-Laurent Casanova *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7782-4169
Vivien Béziat *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-4020-824X
Inserm · FRNational Institutes of Health · USChildren's Hospital of Philadelphia · USCentre National de la Recherche Scientifique · FRDasman Diabetes Institute · KWHumboldt-Universität zu Berlin · DEKU Leuven · BERockefeller University · USShahed University · IRAhvaz Jundishapur University of Medical Sciences · IRCentogene (Germany) · DEHôpital Necker-Enfants Malades · FRInstitut de la Vision · FRIsfahan University of Medical Sciences · IRKumamoto Medical Center · JPMcGill Genome Centre · CANational Defense Medical College · JPResearch Institute Hospital 12 de Octubre · ESTokyo Medical and Dental University · JPUppsala University · SE
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MCharacterization 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
$15.2MIntegration of genomics and transcriptomics to investigate biological pathways in very early onset IBDR01DK127044 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI KELSEN, JUDITH RACHEL · 2021 to 2025
$3.4MObesity dysregulates immune and metabolic status in asthma and alters infection susceptibility.K08AI135091 · NIAID · CHILDREN'S HOSP OF PHILADELPHIA · PI HENRICKSON, SARAH E · 2019 to 2023
$935kPrimary Immune Regulatory Disorders (PIRD): Longitudinal Study of Clinical Presentation, Treatment and OutcomesZIAAI001376 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI DELMONTE, OTTAVIA · 2024 to 2025
$219kHoward Hughes Medical InstituteIntramural NIH HHS ZIA AI001222NCATS NIH HHS UL1 TR001866NIAID NIH HHS K08 AI135091NIDDK NIH HHS R01 DK127044
Abstract
We describe humans with rare biallelic loss-of-function
Indexed as
AutoimmunityIntraepithelial LymphocytesMembrane GlycoproteinsReceptors, Antigen, T-Cell, alpha-betaAgedAged, 80 and overAllelesCell DifferentiationFemaleHomozygoteHumansInfectionsLoss of Function MutationLymphocyte CountLymphoproliferative DisordersMaleMembrane Glycoproteinspre-T cell receptor alphaReceptors, Antigen, T-Cell, alpha-beta
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LicenceCC BY
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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.