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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Zhang, Qian; Matuozzo, Daniela; Le Pen, Jérémie; Lee, Danyel; Moens, Leen; Asano, Takaki; Bohlen, Jonathan; Liu, Zhiyong; Moncada-Velez, Marcela; Kendir-Demirkol, Yasemin; Jing, Huie; Bizien, Lucy; Marchal, Astrid; Abolhassani, Hassan; Delafontaine, Selket; Bucciol, Giorgia; Bayhan, Gulsum Ical; Keles, Sevgi; Kiykim, Ayca; Hancerli, Selda; Haerynck, Filomeen; Florkin, Benoit; Hatipoglu, Nevin; Ozcelik, Tayfun; Morelle, Guillaume; Zatz, Mayana; Ng, Lisa F P; Lye, David Chien; Young, Barnaby Edward; Leo, Yee-Sin; Dalgard, Clifton L; Lifton, Richard P; Renia, Laurent; Meyts, Isabelle; Jouanguy, Emmanuelle; Hammarström, Lennart; Pan-Hammarström, Qiang; Boisson, Bertrand; Bastard, Paul; Su, Helen C; Boisson-Dupuis, Stéphanie; Abel, Laurent; Rice, Charles M; Zhang, Shen-Ying; Cobat, Aurélie; Casanova, Jean-Laurent.
  • Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Le Pen J; University Paris Cité, Imagine Institute, Paris, France.
  • Lee D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Moens L; University Paris Cité, Imagine Institute, Paris, France.
  • Asano T; Laboratory of Virology and Infectious Diseases, The Rockefeller University, New York, NY.
  • Bohlen J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Liu Z; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Moncada-Velez M; University Paris Cité, Imagine Institute, Paris, France.
  • Kendir-Demirkol Y; Laboratory of Virology and Infectious Diseases, The Rockefeller University, New York, NY.
  • Jing H; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Marchal A; University Paris Cité, Imagine Institute, Paris, France.
  • Abolhassani H; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Delafontaine S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Bucciol G; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
  • Bayhan GI; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Keles S; University Paris Cité, Imagine Institute, Paris, France.
  • Kiykim A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  • Hancerli S; University Paris Cité, Imagine Institute, Paris, France.
  • Haerynck F; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.
  • Florkin B; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Hatipoglu N; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
  • Ozcelik T; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Morelle G; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
  • Ng LFP; Yildirim Beyazit University, Ankara City Hospital, Ankara, Turkey.
  • Lye DC; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.
  • Young BE; Istanbul University-Cerrahpasa, Pediatric Allergy and Immunology, Istanbul, Turkey.
  • Leo YS; Department of Pediatrics (Infectious Diseases), Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Dalgard CL; Department of Pediatric Immunology and Pulmonology, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, PID Research Laboratory, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.
  • Lifton RP; Department of Pediatrics, Hôpital de la Citadelle, Liége, Belgium.
  • Renia L; Pediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
  • Meyts I; Department of Molecular Biology and Genetics, Bilkent University, Bilkent-Ankara, Turkey.
  • Jouanguy E; Department of General Pediatrics, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France.
  • Hammarström L; Biosciences Institute, University of São Paulo, São Paulo, Brazil.
  • Pan-Hammarström Q; A*STAR Infectious Diseases Labs (A*STAR ID Labs), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.
  • Boisson B; National Centre for Infectious Diseases, Singapore, Singapore.
  • Bastard P; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
  • Su HC; Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Boisson-Dupuis S; Tan Tock Seng Hospital, Singapore, Singapore.
  • Abel L; National Centre for Infectious Diseases, Singapore, Singapore.
  • Rice CM; Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
  • Zhang SY; Tan Tock Seng Hospital, Singapore, Singapore.
  • Cobat A; National Centre for Infectious Diseases, Singapore, Singapore.
  • Casanova JL; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
J Exp Med ; 219(8)2022 08 01.
Article in English | MEDLINE | ID: covidwho-1901005
ABSTRACT
Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (<16 yr old) hospitalized for COVID-19 pneumonia, we report 12 children (10.7%) aged 1.5-13 yr with critical (7 children), severe (3), and moderate (2) pneumonia and 4 of the 15 known clinically recessive and biochemically complete inborn errors of type I IFN immunity X-linked recessive TLR7 deficiency (7 children) and autosomal recessive IFNAR1 (1), STAT2 (1), or TYK2 (3) deficiencies. Fibroblasts deficient for IFNAR1, STAT2, or TYK2 are highly vulnerable to SARS-CoV-2. These 15 deficiencies were not found in 1,224 children and adults with benign SARS-CoV-2 infection without pneumonia (P = 1.2 × 10-11) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie ∼10% of hospitalizations for COVID-19 pneumonia in children.
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Full text: Available Collection: International databases Database: MEDLINE Main subject: Pneumonia / Interferon Type I / COVID-19 Type of study: Cohort study / Observational study / Prognostic study Limits: Adult / Child / Humans Language: English Year: 2022 Document Type: Article

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Pneumonia / Interferon Type I / COVID-19 Type of study: Cohort study / Observational study / Prognostic study Limits: Adult / Child / Humans Language: English Year: 2022 Document Type: Article