Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1.

Adolescent Adult Autoantibodies / immunology COVID-19 / immunology Child Female Humans Interferon Type I / immunology Male Middle Aged Pneumonia / immunology Polyendocrinopathies, Autoimmune / immunology SARS-CoV-2 / immunology Young Adult

Journal

The Journal of experimental medicine
ISSN: 1540-9538
Titre abrégé: J Exp Med
Pays: United States
ID NLM: 2985109R

Informations de publication

Date de publication:
05 07 2021
Historique:
received: 08 03 2021
revised: 01 04 2021
accepted: 07 04 2021
entrez: 23 4 2021
pubmed: 24 4 2021
medline: 1 5 2021
Statut: ppublish

Résumé

Patients with biallelic loss-of-function variants of AIRE suffer from autoimmune polyendocrine syndrome type-1 (APS-1) and produce a broad range of autoantibodies (auto-Abs), including circulating auto-Abs neutralizing most type I interferons (IFNs). These auto-Abs were recently reported to account for at least 10% of cases of life-threatening COVID-19 pneumonia in the general population. We report 22 APS-1 patients from 21 kindreds in seven countries, aged between 8 and 48 yr and infected with SARS-CoV-2 since February 2020. The 21 patients tested had auto-Abs neutralizing IFN-α subtypes and/or IFN-ω; one had anti-IFN-β and another anti-IFN-ε, but none had anti-IFN-κ. Strikingly, 19 patients (86%) were hospitalized for COVID-19 pneumonia, including 15 (68%) admitted to an intensive care unit, 11 (50%) who required mechanical ventilation, and four (18%) who died. Ambulatory disease in three patients (14%) was possibly accounted for by prior or early specific interventions. Preexisting auto-Abs neutralizing type I IFNs in APS-1 patients confer a very high risk of life-threatening COVID-19 pneumonia at any age.

Identifiants

DOI: 10.1084/jem.20210554 PMID: 33890986 PMC: PMC8077172
pubmed: 33890986
pii: 212019
doi: 10.1084/jem.20210554
pmc: PMC8077172
pii:
doi:

Substances chimiques

Autoantibodies 0
Interferon Type I 0
interferon kappa 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NIAID NIH HHS
ID : R01 AI088364
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States

Informations de copyright

© 2021 Bastard et al.

Déclaration de conflit d'intérêts

Disclosures: P.D. Burbelo reported US Patent no. 10,564,152 issued. J.C. Casanova reported a patent to 63/055,155 pending and a patent to 63/141,669 pending. No other disclosures were reported.

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Auteurs

Paul Bastard (P)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.

Elizaveta Orlova (E)

Endocrinology Research Centre, Moscow, Russia.

Leila Sozaeva (L)

Endocrinology Research Centre, Moscow, Russia.

Romain Lévy (R)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.
Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France.

Alyssa James (A)

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

Monica M Schmitt (MM)

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

Sebastian Ochoa (S)

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

Maria Kareva (M)

Endocrinology Research Centre, Moscow, Russia.

Yulia Rodina (Y)

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.

Adrian Gervais (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Tom Le Voyer (T)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Jérémie Rosain (J)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Quentin Philippot (Q)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Anna-Lena Neehus (AL)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.

Elana Shaw (E)

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

Mélanie Migaud (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.

Lucy Bizien (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.

Olov Ekwall (O)

Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Sweden.
Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Sweden.

Stefan Berg (S)

Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy, University of Gothenburg, Sweden.

Guglielmo Beccuti (G)

Department of Medical Sciences, University of Turin, Turin, Italy.

Lucia Ghizzoni (L)

Department of Medical Sciences, University of Turin, Turin, Italy.

Gérard Thiriez (G)

Intensive Care Unit, Besançon Hospital, Besançon, France.

Arthur Pavot (A)

Intensive Care Unit, Kremlin-Bicêtre Hospital, Kremlin-Bicêtre, France.

Cécile Goujard (C)

Internal Medicine Department, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Paris Saclay University, Institut National de la Santé et de la Recherche Médicale U1018, Le Kremlin-Bicêtre, France.

Marie-Louise Frémond (ML)

Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France.
Laboratory of Neurogenetics and Neuroinflammation, Université de Paris, Imagine Institute, Paris, France.

Edwin Carter (E)

Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, Edinburgh, UK.

Anya Rothenbuhler (A)

Pediatric Endocrinology Department, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Paris Saclay University, Le Kremlin-Bicêtre, France.

Agnès Linglart (A)

Pediatric Endocrinology Department, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Paris Saclay University, Le Kremlin-Bicêtre, France.

Brigite Mignot (B)

Pediatric Medicine Unit, University Hospital of Besançon, Besançon, France.

Aurélie Comte (A)

Pediatric Medicine Unit, University Hospital of Besançon, Besançon, France.

Nathalie Cheikh (N)

Pediatric Hematology Unit, University Hospital of Besançon, Besançon, France.

Olivier Hermine (O)

University of Paris, Imagine Institute, Paris, France.
Hematology department, University of Paris, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France.

Lars Breivik (L)

Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway.

Eystein S Husebye (ES)

Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway.
Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.

Sébastien Humbert (S)

Internal Medicine Unit, Besançon Hospital, Besançon, France.

Pierre Rohrlich (P)

Pediatric Hematology and Oncology unit, Centre Hospitalier Universitaire de Nice, Nice, France.

Alain Coaquette (A)

Laboratory of Virology, Besançon Hospital, Besançon, France.

Fanny Vuoto (F)

Infectious Disease Unit, Lille Hospital, Lille, France.

Karine Faure (K)

Infectious Disease Unit, Lille Hospital, Lille, France.

Nizar Mahlaoui (N)

Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France.
Centre de Référence Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.

Primož Kotnik (P)

Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.

Tadej Battelino (T)

Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.

Katarina Trebušak Podkrajšek (K)

Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.

Kai Kisand (K)

Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.

Elise M N Ferré (EMN)

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

Thomas DiMaggio (T)

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

Lindsey B Rosen (LB)

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

Peter D Burbelo (PD)

National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.

Martin McIntyre (M)

Royal Alexandra Hospital, Paisley, Scotland, UK.

Nelli Y Kann (NY)

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.

Anna Shcherbina (A)

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.

Maria Pavlova (M)

Department of Endocrinology N°1, Sechenov University, Moscow, Russia.

Anna Kolodkina (A)

Endocrinology Research Centre, Moscow, Russia.

Steven M Holland (SM)

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

Shen-Ying Zhang (SY)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.

Yanick J Crow (YJ)

Laboratory of Neurogenetics and Neuroinflammation, Université de Paris, Imagine Institute, Paris, France.
Centre for Genomic and Experimental Medicine, Medical Research Council Institute of Genetics and Molecular Medicine, Edinburgh, UK.

Luigi D Notarangelo (LD)

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

Helen C Su (HC)

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

Laurent Abel (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.

Mark S Anderson (MS)

Diabetes Center, University of California, San Francisco, San Francisco, CA.

Emmanuelle Jouanguy (E)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.

Bénédicte Neven (B)

University of Paris, Imagine Institute, Paris, France.
Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris, Paris, France.

Anne Puel (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.

Jean-Laurent Casanova (JL)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children, Paris, France.
University of Paris, Imagine Institute, Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
Howard Hughes Medical Institute, New York, NY.

Michail S Lionakis (MS)

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

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Classifications MeSH

Recherchemedicale.com › Personnes › Tranches d'âge › Adolescent › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Globulines › Sérum-globulines › Immunoglobulines › Anticorps › Autoanticorps › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Maladies de l'appareil respiratoire › Infections de l'appareil respiratoire › Pneumopathie infectieuse › Pneumopathie virale › COVID-19 › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Personnes › Tranches d'âge › Enfant › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interférons › Interféron de type I › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Maladies de l'appareil respiratoire › Infections de l'appareil respiratoire › Pneumopathie infectieuse › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Maladies du système immunitaire › Maladies auto-immunes › Polyendocrinopathies auto-immunes › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Virus › Virus à ARN › Virus à ARN à brin positif › Nidovirales › Coronaviridae › Coronavirus › Betacoronavirus › Virus du SRAS › SARS-CoV-2 › Preexisting autoantibodies to type I IFNs...
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Jeune adulte › Preexisting autoantibodies to type I IFNs...