{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Asano T"],"funding":["Intramural NIH HHS","NCATS NIH HHS","Howard Hughes Medical Institute","NIAID NIH HHS","Medical Research Council","NHGRI NIH HHS"],"pagination":["eabl4348"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8532080"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6(62)"],"pubmed_abstract":["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 <i>TLR7</i> variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort of 1,202 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 <i>TLR7</i> variants (<i>p</i> = 3.5 × 10<sup>-5</sup>). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (<i>n</i>=2, 5 and 38 years), or moderate (<i>n</i>=1, 5 years), severe"],"journal":["Science immunology"],"pubmed_title":["X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19."],"pmcid":["PMC8532080"],"funding_grant_id":["ZIA AI001265","ZIA AI001270","R01 AI088364","1Z1 AA1001265","UL1 TR001866","R01 AI163029","MR/S032304/1","UL1 TR001863","U24 HG008956","UM1 HG006504"],"pubmed_authors":["Foti G","Sancho-Shimizu V","Arquero MF","van der Poll T","Accordino G","Carrabba M","Hraiech S","Wouters D","Gagro A","Bulle E","Barzagh F","Klocperk A","Gervais A","Rodriguez-Gallego C","Horn J","Bilguvar K","Christele K","Saks K","Horcajada JP","Taupin JL","Sukumar G","Vught LA","Redin C","Spaan AN","Desguerre I","Schluter A","Stepanovskiy Y","Olyaei NA","Citerio G","Levi H","Behilill S","Jimeno MT","De Munter P","Laine 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We report very rare, biochemically deleterious X-linked <i>TLR7</i> variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort of 1,202 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 <i>TLR7</i> variants (<i>p</i> = 3.5 × 10<sup>-5</sup>). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (<i>n</i>=2, 5 and 38 years), or moderate (<i>n</i>=1, 5 years), severe","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2025-05-18T12:35:36.008Z","creation":"2025-04-07T10:43:22.612Z"},"accession":"S-EPMC8532080","cross_references":{"pubmed":["34413140"],"doi":["10.1126/sciimmunol.abl4348"]}}