ArticleNature medicine2021
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
Open access · greenAbstract readCase Reports
In one paragraph
Article in Nature medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
79citing papers in PubMed, 1 pooled it
6.9field-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
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 105 citations in OpenAlex.
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Single-cell transcriptomics reveal PD-1-loss-driven immune dysregulation of pulmonary lymphocytes during earlyMicrobiology spectrum · 2026Article
- Transfer RNA Modifications in the Immune System Participate in Disease Pathogenesis.International journal of molecular sciences · 2026Review
- Review
- A Flow Cytometry-Based Assay to Quantify the Binding of Transmembrane Ligands to Their Cognate Receptors Using Fluorescent Virus-Like Particles.Bio-protocol · 2026Article
- Understanding the Therapeutic Potential of PD-1 Agonism in Inflammatory and Autoimmune Disorders.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2026Review
- A flow cytometry-based assay to quantify the binding of transmembrane ligands to their cognate receptors using fluorescent virus-like particles.bioRxiv : the preprint server for biology · 2026Article
- When Checkpoint Inhibitors Break Barriers: Mechanisms and Challenges of irAEs of the Skin, Gastrointestinal Tract, and Lung.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Review
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- Programmed cell death-1: from a T-cell immune checkpoint to a regulator of Natural Killer cell biology.Frontiers in cell and developmental biology · 2026Review
- Immunotherapy for tuberculosis: emerging modalities, cross-disciplinary innovations, and roadmaps for drug-resistant disease.Frontiers in immunology · 2026Review
- PD-L1-centric whole blood-based immune signature profiles of tuberculosis patients during therapy.Frontiers in immunology · 2026Article
- Genome-Wide Aggregated Trans Effects Analysis for Circulating Proteins Indicates a Key Role of Immune Checkpoints in Type 1 Diabetes.Diabetes · 2025Article
- Progenitor exhausted PD-1Nature cardiovascular research · 2025Article
- Immune Checkpoint Inhibitor-Induced Diabetes Mellitus-A Brief Review and Three Case Reports.Journal of clinical medicine · 2025Review
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Th1 differentiation and function are inhibited in neonates following human metapneumovirus infection.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Human LY9 governs CD4Science immunology · 2025Article
- Checkpoint Inhibitor-Induced Autoimmune Diabetes: An Autoinflammatory Disease.Cold Spring Harbor perspectives in medicine · 2025Review
- Research in practice: Immune checkpoint inhibitor related autoimmune bullous dermatosis.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025Review
19 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
55 authors at 20 institutions in 8 countries.
Masato OgishiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. mogishi@rockefeller.edu.ORCID http://orcid.org/0000-0003-2421-7389
Rui YangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Caner AytekinDepartment of Pediatric Immunology, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.ORCID http://orcid.org/0000-0002-2921-5270
David LanglaisDepartment of Human Genetics, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0003-4429-0110
Mathieu BourgeyMcGill University Genome Center, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-8432-834X
Taushif KhanDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
Fatima Al AliDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
Mahbuba RahmanDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
Ottavia M DelmonteImmune Deficiency Genetics Section, Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Maya ChrabiehLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Peng ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID http://orcid.org/0000-0002-6129-567X
Conor GruberDepartment of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Simon J PelhamSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID http://orcid.org/0000-0002-3119-662X
András N SpaanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID http://orcid.org/0000-0001-5981-7259
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID http://orcid.org/0000-0002-2822-161X
Wei-Te LeiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Scott DrutmanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Matthew D HellmannDepartment of Medicine, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-2670-9777
Margaret K CallahanDepartment of Medicine, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-9087-0012
Matthew AdamowImmune Monitoring Core Facility, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-7709-0126
Phillip WongImmune Monitoring Core Facility, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-6360-849X
Jedd D WolchokDepartment of Medicine, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-6718-2222
Geetha RaoGarvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Cindy S MaGarvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID http://orcid.org/0000-0001-5387-8413
Yuka NakajimaDepartment of Immunology and Genomic Medicine, Center for Cancer Immunotherapy and Immunobiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0002-7357-2910
Tomonori YaguchiDepartment of Immunology and Genomic Medicine, Center for Cancer Immunotherapy and Immunobiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Kenji ChamotoDepartment of Immunology and Genomic Medicine, Center for Cancer Immunotherapy and Immunobiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Samuel C WilliamsLaboratory of Investigative Dermatology, Rockefeller University, New York, NY, USA.
Jean-Francois EmileDepartment of Pathology, Assistance Publique-Hôpitaux de Paris, Ambroise Paré Hospital, Boulogne-Billancourt, France.ORCID http://orcid.org/0000-0002-6073-4466
Flore RozenbergDepartment of Virology, Cochin Hospital, University of Paris, Paris, France.
Michael S GlickmanImmunology Program, Sloan Kettering Institute, New York, NY, USA.ORCID http://orcid.org/0000-0001-7918-5164
Franck RapaportSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Gaspard KernerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Garrett AllingtonDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Ilhan TezcanDepartment of Pediatric Immunology, Hacettepe University Medical Faculty, Ankara, Turkey.
Deniz CagdasDepartment of Pediatric Immunology, Hacettepe University Medical Faculty, Ankara, Turkey.ORCID http://orcid.org/0000-0003-2213-4627
Ferda O HosnutDepartment of Pediatric Gastroenterology, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Figen DoguDepartment of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
Aydan IkinciogullariDepartment of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
V Koneti RaoLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Leena KainulainenDepartment of Pediatrics and Department of Medicine, Turku University Hospital, Turku, Finland.
Vivien BéziatSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID http://orcid.org/0000-0002-4020-824X
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Silvia Vilarinho *Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-2099-4212
Richard P Lifton *Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Bertrand Boisson *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID http://orcid.org/0000-0001-5240-3555
Laurent Abel *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Dusan Bogunovic *Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nico Marr *Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.ORCID http://orcid.org/0000-0002-1927-7072
Luigi D Notarangelo *Immune Deficiency Genetics Section, Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-8335-0262
Stuart G Tangye *Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID http://orcid.org/0000-0002-5360-5180
Tasuku Honjo *Department of Immunology and Genomic Medicine, Center for Cancer Immunotherapy and Immunobiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0003-2300-3928
Philippe Gros *McGill Research Centre on Complex Traits, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-0114-1978
Stéphanie Boisson-Dupuis *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. stbo603@rockefeller.edu.ORCID http://orcid.org/0000-0002-7115-116X
Jean-Laurent Casanova *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. casanova@rockefeller.edu.ORCID http://orcid.org/0000-0002-7782-4169
Inserm · FRRockefeller University · USMemorial Sloan Kettering Cancer Center · USKyoto University · JPGarvan Institute of Medical Research · AUNational Institutes of Health · USYale University · USAnkara University · TRChild Health and Development Institute · USHacettepe University · TRMcGill University · CAMinistry of Health · TRAssistance Publique – Hôpitaux de Paris · FRCornell University · USHamad bin Khalifa University · QAHoward Hughes Medical Institute · USKettering University · USMcGill Genome Centre · CATurku University Hospital · FIUniversité Paris Cité · FR
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MWeill Cornell/Rockefeller/Sloan-Kettering MST ProgramT32GM007739 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI HSU, KATHARINE C · 1985 to 2023
$51.1MViable but Nonculturable MtbU19AI111143 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI AUBE, JEFFREY, GLICKMAN, MICHAEL S · 2014 to 2020
$48.6MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MTissue and organ specific human B cell immunity: Supplement - Metabolic Risk Factors and Inflammation in PASC DevelopmentU19AI142737 · NIAID · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI LUND, FRANCES E. · 2019 to 2023
$19.7MCharacterization 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
$15.2MPharmacology & ImmunoPathology (PIP) CoreU19AI162568 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI EHRT, SABINE, GLICKMAN, MICHAEL S · 2021 to 2025
$13.0MClinical, Immunological and Genetic Analyses of ALPS and Related Immunedysregulatory DisordersZIAAI000732 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI RAO, V KONETI · 2009 to 2025
$10.5MIMMUNIZATION AGAINST MELANOMA DIFFERENTIATION ANTIGENSR01CA056821 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI WOLCHOK, JEDD D. · 1992 to 2020
$5.7MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MDeciphering the Genetic Basis of Portal HypertensionK08DK113109 · NIDDK · YALE UNIVERSITY · PI VILARINHO, SILVIA · 2018 to 2022
$851kNCATS NIH HHS UL1 TR001866NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA056821NIAID NIH HHS R01 AI095983NIAID NIH HHS R37 AI095983NIAID NIH HHS U19 AI111143NIAID NIH HHS U19 AI142737NIAID NIH HHS U19 AI162568NIDDK NIH HHS K08 DK113109NIGMS NIH HHS T32 GM007739
Abstract
The pathophysiology of adverse events following programmed cell death protein 1 (PD-1) blockade, including tuberculosis (TB) and autoimmunity, remains poorly characterized. We studied a patient with inherited PD-1 deficiency and TB who died of pulmonary autoimmunity. The patient's leukocytes did not express PD-1 or respond to PD-1-mediated suppression. The patient's lymphocytes produced only small amounts of interferon (IFN)-γ upon mycobacterial stimuli, similarly to patients with inborn errors of IFN-γ production who are vulnerable to TB. This phenotype resulted from a combined depletion of Vδ2
Indexed as
AutoimmunityCD4-Positive T-LymphocytesCD56 AntigenCD8-Positive T-LymphocytesChildHumansImmune Checkpoint InhibitorsImmunotherapyInterleukin-23Interleukin-6Intraepithelial LymphocytesMaleMycobacterium tuberculosisNeoplasmsNuclear Receptor Subfamily 1, Group F, Member 3Programmed Cell Death 1 ReceptorCD56 AntigenImmune Checkpoint InhibitorsInterleukin-23Interleukin-6Nuclear Receptor Subfamily 1, Group F, Member 3PDCD1 protein, humanProgrammed Cell Death 1 ReceptorRORC protein, humanSTAT3 protein, humanSTAT3 Transcription Factor
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