DESCRIPTION:

In primary peripheral blood mononuclear cells from the patients, downstream type I interferon (IFN) signaling was transcriptionally downregulated, as measured by significantly decreased mRNA expression of IRF7, IFNB1, and ISG15 on stimulation with the TLR7 agonist imiquimod as compared with family members and controls.

LABEL:

Reduced immune response in TLR7 mutated COVID-19 patients

SCORE TYPE:

Effect

DATE ADDED:

2020-08-13

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Guus van den Heuvel, Tuomo Mantere, Simone Kersten, Rosanne C van Deuren, Marloes Steehouwer, Simon V van Reijmersdal, Martin Jaeger, Tom Hofste, Galuh Astuti, Jordi Corominas Galbany, Vyne van der Schoot, Hans van der Hoeven, Wanda Hagmolen Of Ten Have, Eva Klijn, Catrien van den Meer, Jeroen Fiddelaers, Quirijn de Mast, Chantal P Bleeker-Rovers, Leo A B Joosten, Helger G Yntema, Christian Gilissen, Marcel Nelen, Jos W M van der Meer, Han G Brunner, Mihai G Netea, Frank L van de Veerdonk, Alexander Hoischen

TITLE:

Presence of Genetic Variants Among Young Men With Severe COVID-19.

JOURNAL:

JAMA Jul 2020, Vol None, pp. None

ABSTRACT:

Severe coronavirus disease 2019 (COVID-19) can occur in younger, predominantly male, patients without preexisting medical conditions. Some individuals may have primary immunodeficiencies that predispose to severe infections caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). PUBMED: 32706371
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