Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency - Archive ouverte HAL
Article Dans Une Revue Journal of Experimental Medicine Année : 2022

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Tessa Mollie Campbell (1) , Zhiyong Liu (2) , Qian Zhang (2, 3, 4) , Marcela Moncada-Velez (2) , Laura E Covill (1) , Peng Zhang (2) , Ilad Alavi Darazam (5) , Paul Bastard (2, 3, 4) , Lucy Bizien (3, 4) , Giorgia Bucciol (6, 7) , Sara Lind Enoksson (8, 1) , Emmanuelle Jouanguy (2, 3, 4) , Şemsi Nur Karabela (9) , Taushif Khan (10) , Yasemin Kendir-Demirkol (2) , Andres Augusto Arias (2, 11) , Davood Mansouri (5) , Per Marits (8, 1) , Nico Marr (10) , Isabelle Migeotte (12, 13) , Leen Moens (6) , Tayfun Ozcelik (14) , Isabelle Pellier (15, 16) , Anton Sendel (8) , Sevtap Şenoğlu (9) , Mohammad Shahrooei (17, 18) , C.I. Edvard Smith (8, 1) , Isabelle Vandernoot (12, 13) , Karen Willekens (7) , Kadriye Kart Yaşar (9) , Peter Bergman (8, 1) , Laurent Abel (2, 3, 4) , Aurélie Cobat (2, 3, 4) , Jean-Laurent Casanova (2, 3, 4, 19) , Isabelle Meyts (6, 7) , Yenan T Bryceson (1, 8, 20)
1 Karolinska Institutet [Stockholm]
2 Rockefeller University [New York]
3 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
4 Hôpital Necker - Enfants Malades [AP-HP]
5 SBUMS - Shahid Beheshti University of Medical Sciences [Tehran]
6 Department of Microbiology, Immunology and Transplantation [Leuven]
7 University Hospitals Leuven [Leuven]
8 Karolinska University Hospital [Stockholm]
9 University of Health Sciences [Istanbul, Turkey]
10 Sidra Medicine [Doha, Qatar]
11 Universidad de Antioquia = University of Antioquia [Medellín, Colombia]
12 ULB - Université libre de Bruxelles
13 HUB-ULB - Hôpital Erasme = Erasmus Hospital = Erasmus Ziekenhuis
14 Bilkent University [Ankara]
15 CRCI2NA - Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes-Angers
16 CHU Angers - Centre Hospitalier Universitaire d'Angers
17 Specialized Immunology Laboratory of Dr Shahrooei, [Ahvaz, Iran]
18 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
19 HHMI - Howard Hughes Medical Institute [Boston]
20 UiB - University of Bergen
Tessa Mollie Campbell
Karolinska Institutet [Stockholm]
Zhiyong Liu
Rockefeller University [New York]
Qian Zhang
  • Fonction : Auteur
  • PersonId : 1199243
Rockefeller University [New York]
Imagine - Institut des maladies génétiques (IHU)
Hôpital Necker - Enfants Malades [AP-HP]
Marcela Moncada-Velez
Rockefeller University [New York]
Laura E Covill
Karolinska Institutet [Stockholm]
Peng Zhang
Rockefeller University [New York]
Ilad Alavi Darazam
Shahid Beheshti University of Medical Sciences [Tehran]
Paul Bastard
Rockefeller University [New York]
Imagine - Institut des maladies génétiques (IHU)
Hôpital Necker - Enfants Malades [AP-HP]
Lucy Bizien
Imagine - Institut des maladies génétiques (IHU)
Hôpital Necker - Enfants Malades [AP-HP]
Giorgia Bucciol
Department of Microbiology, Immunology and Transplantation [Leuven]
University Hospitals Leuven [Leuven]
Sara Lind Enoksson
Karolinska University Hospital [Stockholm]
Karolinska Institutet [Stockholm]
Emmanuelle Jouanguy
  • Fonction : Auteur
Rockefeller University [New York]
Imagine - Institut des maladies génétiques (IHU)
Hôpital Necker - Enfants Malades [AP-HP]
Şemsi Nur Karabela
University of Health Sciences [Istanbul, Turkey]
Taushif Khan
Sidra Medicine [Doha, Qatar]
Yasemin Kendir-Demirkol
Rockefeller University [New York]
Andres Augusto Arias
Rockefeller University [New York]
Universidad de Antioquia = University of Antioquia [Medellín, Colombia]
Davood Mansouri
Shahid Beheshti University of Medical Sciences [Tehran]
Per Marits
Karolinska University Hospital [Stockholm]
Karolinska Institutet [Stockholm]
Nico Marr
Sidra Medicine [Doha, Qatar]
Isabelle Migeotte
Université libre de Bruxelles
Hôpital Erasme = Erasmus Hospital = Erasmus Ziekenhuis
Leen Moens
Department of Microbiology, Immunology and Transplantation [Leuven]
Tayfun Ozcelik
Bilkent University [Ankara]
Isabelle Pellier
Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes-Angers
Centre Hospitalier Universitaire d'Angers
Anton Sendel
Karolinska University Hospital [Stockholm]
Sevtap Şenoğlu
University of Health Sciences [Istanbul, Turkey]
Mohammad Shahrooei
Specialized Immunology Laboratory of Dr Shahrooei, [Ahvaz, Iran]
Catholic University of Leuven = Katholieke Universiteit Leuven
C.I. Edvard Smith
Karolinska University Hospital [Stockholm]
Karolinska Institutet [Stockholm]
Isabelle Vandernoot
Université libre de Bruxelles
Hôpital Erasme = Erasmus Hospital = Erasmus Ziekenhuis
Karen Willekens
University Hospitals Leuven [Leuven]
Kadriye Kart Yaşar
University of Health Sciences [Istanbul, Turkey]
Peter Bergman
Karolinska University Hospital [Stockholm]
Karolinska Institutet [Stockholm]
Laurent Abel
  • Fonction : Auteur
Rockefeller University [New York]
Imagine - Institut des maladies génétiques (IHU)
Hôpital Necker - Enfants Malades [AP-HP]
Aurélie Cobat
  • Fonction : Auteur
  • PersonId : 974913
Rockefeller University [New York]
Imagine - Institut des maladies génétiques (IHU)
Hôpital Necker - Enfants Malades [AP-HP]
Jean-Laurent Casanova
  • Fonction : Auteur
  • PersonId : 918278
Rockefeller University [New York]
Imagine - Institut des maladies génétiques (IHU)
Hôpital Necker - Enfants Malades [AP-HP]
Howard Hughes Medical Institute [Boston]
Isabelle Meyts
Department of Microbiology, Immunology and Transplantation [Leuven]
University Hospitals Leuven [Leuven]
Yenan T Bryceson
  • Fonction : Auteur
  • PersonId : 1436316
Karolinska Institutet [Stockholm]
Karolinska University Hospital [Stockholm]
University of Bergen

Résumé

Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients’ fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2–specific memory CD4+ and CD8+ T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-β and compensatory adaptive immunity.

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Sciences du Vivant [q-bio]
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https://hal.science/hal-04766954

Soumis le : mardi 5 novembre 2024-11:11:10

Dernière modification le : lundi 2 décembre 2024-17:20:52

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hal-04766954 , version 1 (05-11-2024)

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Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, Marcela Moncada-Velez, Laura E Covill, et al.. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. Journal of Experimental Medicine, 2022, 219 (7), pp.e20220202. ⟨10.1084/jem.20220202⟩. ⟨hal-04766954⟩

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