Scopus
🔓 Açık Erişim YÖKSİS DOI Eşleşti
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science Immunology · Ağustos 2021
Özet
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean, 36.7 years) from a cohort of 1202 male patients aged 0.5 to 99 years (mean, 52.9 years) with unexplained critical COVID-19 pneumonia. None of the 331 asymptomatically or mildly infected male individuals aged 1.3 to 102 years (mean, 38.7 years) tested carry such TLR7 variants (P = 3.5 × 10−5). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (n = 2) or moderate (n = 1), severe (n = 1), or critical (n = 1) pneumonia. Two patients from a cohort of 262 male patients with severe COVID-19 pneumonia (mean, 51.0 years) are hemizygous for a deleterious TLR7 variant. The cumulative allele frequency for deleterious TLR7 variants in the male general population is <6.5 × 10−4. We show that blood B cell lines and myeloid cell subsets from the patients do not respond to TLR7 stimulation, a phenotype rescued by wild-type TLR7. The patients’ blood plasmacytoid dendritic cells (pDCs) produce low levels of type I IFNs in response to SARS-CoV-2. Overall, X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years. Human TLR7 and pDCs are essential for protective type I IFN immunity against SARS-CoV-2 in the respiratory tract.
YÖKSİS Kayıtları
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science Immunology · 2021 SCI-Expanded
Prof. Dr. JALE BENGİ ÇELİK →
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science Immunology · 2021 SCI-Expanded
Prof. Dr. JALE BENGİ ÇELİK →
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science Immunology · 2021 SCI-Expanded
Prof. Dr. JALE BENGİ ÇELİK →
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science Immunology · 2021 SCI-Expanded
Doç. Dr. GÜLSÜM ALKAN →
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science Immunology · 2021 SCI-Expanded
Prof. Dr. MELİKE EMİROĞLU →
Makale Bilgileri
Dergi
Science Immunology
Toplam Atıf
344 atıf
· Scopus
Yayın TarihiAğustos 2021
Cilt / Sayfa6
Scopus ID2-s2.0-85113561257
Erişim🔓 Açık Erişim
Kurumlar
Barcelona Institute of Science and Technology (BIST)
Barcelona Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras
Madrid Spain
Centro de Investigación Biomédica en Red de Enfermedades Respiratorias
Madrid Spain
Centro de Regulacion Genomica, Barcelona
Barcelona Spain
EU Business School
Barcelona Spain
Helix OpCo LLC
San Diego United States
Hopital Avicenne
Bobigny France
Hôpital Bichat-Claude-Bernard AP-HP
Paris France
Hôpital Necker Enfants Malades
Paris France
Hôpital Tenon
Paris France
Hospital de Gran Canaria Dr. Negrin
Las Palmas de Gran Canaria Spain
Hospital Duran i Reynals
Barcelona Spain
Hospital Universitario 12 de Octubre
Madrid Spain
Hospital Universitario Infanta Leonor
Madrid Spain
Hospital Universitario Nuestra Senora de Candelaria
Santa Cruz de Tenerife Spain
Hospital Universitari Vall d'Hebron
Barcelona Spain
Hypoxie & Poumon (H&P)
Bobigny France
Inserm
Paris France
Institució Catalana de Recerca i Estudis Avançats
Barcelona Spain
Institut de Recherche Saint-Louis
Paris France
Institut d'Investigació Biomedica de Bellvitge
Hospitalet de Llobregat Spain
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid Spain
Instituto de Salud Carlos III
Madrid Spain
Instituto Tecnológico y de Energías Renovables, S.A.
Granadilla de Abona Spain
Invitae Corporation
San Francisco United States
IRCCS Ospedale Pediatrico Bambino Gesù
Rome Italy
IRCCS Ospedale San Raffaele
Milan Italy
Istituto Neurologico Mediterraneo Neuromed, Pozzilli
Pozzilli Italy
Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies
Barcelona Spain
Karlstad Central Hospital
Karlstad Sweden
Karolinska Institutet
Stockholm Sweden
Karolinska Universitetssjukhuset
Stockholm Sweden
Konya City Hospital
Konya Turkey
KU Leuven
Leuven Belgium
Loghman Hakim Educational Hospital
Tehran Iran
National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda United States
National Research Institute of Tuberculosis and Lung Disease Tehran
Tehran Iran
Necmettin Erbakan Üniversitesi
Meram Turkey
Research Center for Immunodeficiencies
Tehran Iran
Rockefeller University
New York United States
San Raffaele Scientific Institute
Milan Italy
San Raffaele Telethon Institute for Gene Therapy
Milan Italy
SBUMS Clinical Tuberculosis and Epidemiology Research Center
Tehran Iran
Shahid Beheshti University of Medical Sciences
Tehran Iran
Sidra Medicine
Doha Qatar
Sina Medical Complex
Ahvaz Iran
Sorbonne Université
Paris France
Uniformed Services University of the Health Sciences
Bethesda United States
Universidad Complutense de Madrid
Madrid Spain
Universidad de Antioquia
Medellin Colombia
Universidad de la Laguna
San Cristobal de La Laguna Spain
Universidad de La Sabana
Chía Colombia
Universidad Fernando Pessoa Canarias
Santa Maria de Guia de Gran Canaria Spain
Università degli Studi di Milano
Milan Italy
Università degli Studi di Milano-Bicocca
Milan Italy
Università degli Studi di Roma "Tor Vergata"
Rome Italy
Università Vita-Salute San Raffaele
Milan Italy
Université de Lyon
Lyon France
Université Paris Cité
Paris France
Université Paris-Saclay
Gif-sur-Yvette France
University Medical Center Utrecht
Utrecht Netherlands
University of Health Sciences
Istanbul Turkey
University of Pennsylvania Perelman School of Medicine
Philadelphia United States
Vall d’Hebron Barcelona Hospital Campus
Barcelona Spain
Vall d'Hebron Institut de Recerca
Barcelona Spain
Yale School of Medicine
New Haven United States
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