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"https://publications.scilifelab.se/researcher/24ef4ca1eb3a4b1bbee73f07cd64fe92.json"}}, {"family": "Su", "given": "Helen C", "initials": "HC", "orcid": "0000-0002-5582-9110", "researcher": {"href": "https://publications.scilifelab.se/researcher/5f3b00f2707541b39b2205d70fd2d6f7.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E", "orcid": "0000-0002-7358-9157", "researcher": {"href": "https://publications.scilifelab.se/researcher/2667361dc2e7417bb94bfc89bf425cc6.json"}}, {"family": "Amara", "given": "Ali", "initials": "A"}, {"family": "Soumelis", "given": "Vassili", "initials": "V", "orcid": "0000-0003-1849-9834", "researcher": {"href": "https://publications.scilifelab.se/researcher/140bfa7d989d40419b80967ea524e390.json"}}, {"family": "Cobat", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0001-7209-6257", "researcher": {"href": "https://publications.scilifelab.se/researcher/eaba2f9452294eec89161b589d96ff29.json"}}, {"family": "Zhang", "given": "Qian", "initials": "Q", "orcid": "0000-0002-9040-3289", "researcher": {"href": "https://publications.scilifelab.se/researcher/5bee352280384ad99b180f4f4bac42f5.json"}}, {"family": "Casanova", "given": "Jean-Laurent", "initials": "JL", "orcid": "0000-0002-7782-4169", "researcher": {"href": "https://publications.scilifelab.se/researcher/009e2306468648c08fb1eea319f0c488.json"}}], "type": "journal article", "published": "2021-08-19", "journal": {"title": "Sci Immunol", "issn": "2470-9468", "volume": "6", "issue": "62", "issn-l": null}, "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 TLR7 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 TLR7 variants (p = 3.5 \u00d7 10-5). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (n=2, 5 and 38 years), or moderate (n=1, 5 years), severe (n=1, 27 years), or critical (n=1, 29 years) pneumonia. Two boys (aged 7 and 12 years) 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 < 6.5x10-4 We also 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.", "doi": "10.1126/sciimmunol.abl4348", "pmid": "34413140", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS1744435"}, {"db": "pmc", "key": "PMC8532080"}, {"db": "pii", "key": "6/62/eabl4348"}], "notes": [], "created": "2022-11-30T05:59:36.974Z", "modified": "2023-06-19T09:15:18.018Z"}]}