Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.

Autoimmunity / genetics CD4-Positive T-Lymphocytes / immunology CD56 Antigen / genetics CD8-Positive T-Lymphocytes / immunology Child Humans Immune Checkpoint Inhibitors / adverse effects Immunotherapy / adverse effects Interleukin-23 / genetics Interleukin-6 / genetics Intraepithelial Lymphocytes / immunology Male Mycobacterium tuberculosis / pathogenicity Neoplasms / complications Nuclear Receptor Subfamily 1, Group F, Member 3 / genetics Programmed Cell Death 1 Receptor / deficiency STAT3 Transcription Factor / genetics Tuberculosis / genetics

Journal

Nature medicine
ISSN: 1546-170X
Titre abrégé: Nat Med
Pays: United States
ID NLM: 9502015

Informations de publication

Date de publication:
09 2021
Historique:
received: 02 11 2020
accepted: 06 05 2021
pubmed: 30 6 2021
medline: 9 10 2021
entrez: 29 6 2021
Statut: ppublish

Résumé

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

Identifiants

DOI: 10.1038/s41591-021-01388-5 PMID: 34183838 PMC: PMC8446316
pubmed: 34183838
doi: 10.1038/s41591-021-01388-5
pii: 10.1038/s41591-021-01388-5
pmc: PMC8446316
mid: NIHMS1710763
doi:

Substances chimiques

CD56 Antigen 0
Immune Checkpoint Inhibitors 0
Interleukin-23 0
Interleukin-6 0
Nuclear Receptor Subfamily 1, Group F, Member 3 0
PDCD1 protein, human 0
Programmed Cell Death 1 Receptor 0
RORC protein, human 0
STAT3 Transcription Factor 0
STAT3 protein, human 0

Types de publication

Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1646-1654

Subventions

Organisme : NIAID NIH HHS
ID : U19 AI111143
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI095983
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI142737
Pays : United States
Organisme : NIAID NIH HHS
ID : R37 AI095983
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA056821
Pays : United States
Organisme : NIDDK NIH HHS
ID : K08 DK113109
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007739
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI162568
Pays : United States

Informations de copyright

© 2021. The Author(s), under exclusive licence to Springer Nature America, Inc.

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Auteurs

Masato Ogishi (M)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. mogishi@rockefeller.edu.
The David Rockefeller Graduate Program, Rockefeller University, New York, NY, USA. mogishi@rockefeller.edu.
ORCID: 0000-0003-2421-7389

Rui Yang (R)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

Caner Aytekin (C)

Department of Pediatric Immunology, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
ORCID: 0000-0002-2921-5270

David Langlais (D)

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
ORCID: 0000-0003-4429-0110

Mathieu Bourgey (M)

McGill University Genome Center, Montreal, Quebec, Canada.
ORCID: 0000-0002-8432-834X

Taushif Khan (T)

Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.

Fatima Al Ali (FA)

Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.

Mahbuba Rahman (M)

Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.

Ottavia M Delmonte (OM)

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.

Maya Chrabieh (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Peng Zhang (P)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-6129-567X

Conor Gruber (C)

Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Simon J Pelham (SJ)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-3119-662X

András N Spaan (AN)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-5981-7259

Jérémie Rosain (J)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.
ORCID: 0000-0002-2822-161X

Wei-Te Lei (WT)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

Scott Drutman (S)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

Matthew D Hellmann (MD)

Department of Medicine, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.
ORCID: 0000-0002-2670-9777

Margaret K Callahan (MK)

Department of Medicine, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.
ORCID: 0000-0002-9087-0012

Matthew Adamow (M)

Immune Monitoring Core Facility, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Parker Institute for Cancer Immunotherapy, San Francisco, CA, USA.
ORCID: 0000-0002-7709-0126

Phillip Wong (P)

Immune Monitoring Core Facility, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
ORCID: 0000-0002-6360-849X

Jedd D Wolchok (JD)

Department of Medicine, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Weill Cornell Medicine, New York, NY, USA.
Parker Institute for Cancer Immunotherapy, San Francisco, CA, USA.
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
ORCID: 0000-0001-6718-2222

Geetha Rao (G)

Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.

Cindy S Ma (CS)

Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.
ORCID: 0000-0001-5387-8413

Yuka Nakajima (Y)

Department of Immunology and Genomic Medicine, Center for Cancer Immunotherapy and Immunobiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
ORCID: 0000-0002-7357-2910

Tomonori Yaguchi (T)

Department of Immunology and Genomic Medicine, Center for Cancer Immunotherapy and Immunobiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Kenji Chamoto (K)

Department of Immunology and Genomic Medicine, Center for Cancer Immunotherapy and Immunobiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Samuel C Williams (SC)

Laboratory of Investigative Dermatology, Rockefeller University, New York, NY, USA.
Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD Program, New York, NY, USA.

Jean-Francois Emile (JF)

Department of Pathology, Assistance Publique-Hôpitaux de Paris, Ambroise Paré Hospital, Boulogne-Billancourt, France.
ORCID: 0000-0002-6073-4466

Flore Rozenberg (F)

Department of Virology, Cochin Hospital, University of Paris, Paris, France.

Michael S Glickman (MS)

Immunology Program, Sloan Kettering Institute, New York, NY, USA.
ORCID: 0000-0001-7918-5164

Franck Rapaport (F)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

Gaspard Kerner (G)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Garrett Allington (G)

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Section of Digestive Diseases, Departments of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.
Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.

Ilhan Tezcan (I)

Department of Pediatric Immunology, Hacettepe University Medical Faculty, Ankara, Turkey.

Deniz Cagdas (D)

Department of Pediatric Immunology, Hacettepe University Medical Faculty, Ankara, Turkey.
ORCID: 0000-0003-2213-4627

Ferda O Hosnut (FO)

Department of Pediatric Gastroenterology, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.

Figen Dogu (F)

Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.

Aydan Ikinciogullari (A)

Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.

V Koneti Rao (VK)

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Leena Kainulainen (L)

Department of Pediatrics and Department of Medicine, Turku University Hospital, Turku, Finland.

Vivien Béziat (V)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.
ORCID: 0000-0002-4020-824X

Jacinta Bustamante (J)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.
Study Center of Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.

Silvia Vilarinho (S)

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Section of Digestive Diseases, Departments of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.
Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.
ORCID: 0000-0002-2099-4212

Richard P Lifton (RP)

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.

Bertrand Boisson (B)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.
ORCID: 0000-0001-5240-3555

Laurent Abel (L)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Dusan Bogunovic (D)

Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Nico Marr (N)

Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
ORCID: 0000-0002-1927-7072

Luigi D Notarangelo (LD)

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: 0000-0002-8335-0262

Stuart G Tangye (SG)

Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.
ORCID: 0000-0002-5360-5180

Tasuku Honjo (T)

Department of Immunology and Genomic Medicine, Center for Cancer Immunotherapy and Immunobiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
ORCID: 0000-0003-2300-3928

Philippe Gros (P)

McGill Research Centre on Complex Traits, Montreal, Quebec, Canada.
Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
ORCID: 0000-0002-0114-1978

Stéphanie Boisson-Dupuis (S)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. stbo603@rockefeller.edu.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. stbo603@rockefeller.edu.
University of Paris, Imagine Institute, Paris, France. stbo603@rockefeller.edu.
ORCID: 0000-0002-7115-116X

Jean-Laurent Casanova (JL)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. casanova@rockefeller.edu.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. casanova@rockefeller.edu.
University of Paris, Imagine Institute, Paris, France. casanova@rockefeller.edu.
Howard Hughes Medical Institute, New York, NY, USA. casanova@rockefeller.edu.
ORCID: 0000-0002-7782-4169

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Classifications MeSH

questionsmedicales.fr › Phénomènes du système immunitaire › Immunité › Auto-immunité › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › Lymphocytes T CD4+ › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Antigènes de différenciation › Antigènes de différenciation des lymphocytes T › Antigènes CD56 › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › Lymphocytes T CD8+ › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Actions chimiques et utilisations › Actions pharmacologiques › Utilisations thérapeutiques › Antinéoplasiques › Antinéoplasiques immunologiques › Inhibiteurs de points de contrôle immunitaires › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Thérapeutique › Biothérapie › Immunothérapie › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interleukines › Interleukine-23 › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interleukines › Interleukine-6 › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › Sous-populations de lymphocytes T › Lymphocytes intra-épithéliaux › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Bactéries › Bactéries à Gram positif › Bâtonnets à Gram positif › Bâtonnets asporogènes à Gram positif › Bâtonnets asporogènes réguliers à Gram positif › Mycobacteriaceae › Mycobacterium › Mycobacterium tuberculosis › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Tumeurs › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Récepteurs cytoplasmiques et nucléaires › Membre-3 du groupe F de la sous-famille-1 de récepteurs nucléaires › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Antigènes de différenciation › Antigènes de différenciation des lymphocytes T › Récepteur-1 de mort cellulaire programmée › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription STAT › Facteur de transcription STAT-3 › Inherited PD-1 deficiency underlies...
questionsmedicales.fr › Infection › Infections bactériennes et mycoses › Infections bactériennes › Infections bactériennes à Gram positif › Infections à Actinomycetales › Infections à Mycobacterium › Tuberculose › Inherited PD-1 deficiency underlies...