{"entity": "researcher", "timestamp": "2026-04-13T05:11:05.305Z", "family": "Jing", "given": "Huie", "initials": "H", "orcid": "0000-0001-6283-3452", "affiliations": ["Laboratory of Clinical Immunology and Microbiology, Intramural Research Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/ae3d49c1912a46d8a2036e82d37f0a5d.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/ae3d49c1912a46d8a2036e82d37f0a5d"}}, "publications": [{"entity": "publication", "iuid": "7ca635b3cc7746f592d8de4c660aab51", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7ca635b3cc7746f592d8de4c660aab51.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7ca635b3cc7746f592d8de4c660aab51"}}, "title": "Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.", "authors": [{"family": "Zhang", "given": "Qian", "initials": "Q", "orcid": "0000-0002-9040-3289", "researcher": {"href": "https://publications.scilifelab.se/researcher/5bee352280384ad99b180f4f4bac42f5.json"}}, {"family": "Matuozzo", "given": "Daniela", "initials": "D", "orcid": "0000-0001-9514-3837", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a74128c36fa425981d8f14b0dc7e90e.json"}}, {"family": "Le Pen", "given": "J\u00e9r\u00e9mie", "initials": "J", "orcid": "0000-0001-7025-9526", "researcher": {"href": "https://publications.scilifelab.se/researcher/37697db380b7484689cd6c7aabf36f11.json"}}, {"family": "Lee", "given": "Danyel", "initials": "D", "orcid": "0000-0003-3124-0245", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb8465d2b44042b49dfdf7ac78600359.json"}}, {"family": "Moens", "given": "Leen", "initials": "L", "orcid": "0000-0002-5347-6526", "researcher": {"href": "https://publications.scilifelab.se/researcher/577b0c2d09e349d89ef8ae73efd8c5f7.json"}}, {"family": "Asano", "given": "Takaki", "initials": "T", "orcid": "0000-0003-1424-2433", "researcher": {"href": "https://publications.scilifelab.se/researcher/ac5194017554453e88b16a4db83ff29a.json"}}, {"family": "Bohlen", "given": "Jonathan", "initials": "J", "orcid": "0000-0003-0458-9484", "researcher": {"href": "https://publications.scilifelab.se/researcher/a740e67ef67a4958961dc5fbbf27c95f.json"}}, {"family": "Liu", "given": "Zhiyong", "initials": "Z", "orcid": "0000-0001-6473-348X", "researcher": {"href": "https://publications.scilifelab.se/researcher/b494af73b8ff4a7b89c23d8c524ed55a.json"}}, {"family": "Moncada-Velez", "given": "Marcela", "initials": "M", "orcid": "0000-0002-3073-5345", "researcher": {"href": "https://publications.scilifelab.se/researcher/2bf242c5e03d4aec82e164cc56a45bc8.json"}}, {"family": "Kendir-Demirkol", "given": "Yasemin", "initials": "Y", "orcid": "0000-0001-8016-5224", "researcher": {"href": "https://publications.scilifelab.se/researcher/e83878a6003444f280ab0ca66d84d853.json"}}, {"family": "Jing", "given": "Huie", "initials": "H", "orcid": "0000-0001-6283-3452", "researcher": {"href": "https://publications.scilifelab.se/researcher/ae3d49c1912a46d8a2036e82d37f0a5d.json"}}, {"family": "Bizien", "given": "Lucy", "initials": "L", "orcid": "0000-0001-9163-9122", "researcher": {"href": "https://publications.scilifelab.se/researcher/61953873d0704a21beb1769e160a8f9c.json"}}, {"family": "Marchal", "given": "Astrid", "initials": "A", "orcid": "0000-0003-0648-8126", "researcher": {"href": "https://publications.scilifelab.se/researcher/28c721f7c49542539df2986b4ff01c64.json"}}, {"family": "Abolhassani", "given": "Hassan", "initials": "H", "orcid": "0000-0002-4838-0407", "researcher": {"href": "https://publications.scilifelab.se/researcher/20370042ca1045c3bcaac67821a93df2.json"}}, {"family": "Delafontaine", "given": "Selket", "initials": "S", "orcid": "0000-0002-8985-8155", "researcher": {"href": "https://publications.scilifelab.se/researcher/7896b86b42b04c65823b4f9e52c3f0fe.json"}}, {"family": "Bucciol", "given": "Giorgia", "initials": "G", "orcid": "0000-0001-5004-0738", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2100e03e54c43349bf6191f3e79caeb.json"}}, {"family": "COVID Human Genetic Effort", "given": "", "initials": ""}, {"family": "Bayhan", "given": "Gulsum Ical", "initials": "GI", "orcid": "0000-0002-1423-4348", "researcher": {"href": "https://publications.scilifelab.se/researcher/6f345e9c304141adb9bdb6f8ccf89a58.json"}}, {"family": "Keles", "given": "Sevgi", "initials": "S", "orcid": "0000-0001-7344-8947", "researcher": {"href": "https://publications.scilifelab.se/researcher/0b137fd96c0842288b660de7b4e0dfa7.json"}}, {"family": "Kiykim", "given": "Ayca", "initials": "A", "orcid": "0000-0001-5821-3963", "researcher": {"href": "https://publications.scilifelab.se/researcher/8566891bea9a4dd88bf1b6adef4c3a15.json"}}, {"family": "Hancerli", "given": "Selda", "initials": "S", "orcid": "0000-0002-3216-2413", "researcher": {"href": "https://publications.scilifelab.se/researcher/1782d634117a4806b0adeb8336a83236.json"}}, {"family": "Haerynck", "given": "Filomeen", "initials": "F", "orcid": "0000-0001-9161-7361", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4c5908a94bd4f99919c30ea03c8cae0.json"}}, {"family": "Florkin", "given": "Benoit", "initials": "B", "orcid": "0000-0001-7318-8348", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ba54213bb214e58ad462e98960f7396.json"}}, {"family": "Hatipoglu", "given": "Nevin", "initials": "N", "orcid": "0000-0003-2858-0150", "researcher": {"href": "https://publications.scilifelab.se/researcher/d396fdc46870452697c42b889866e40e.json"}}, {"family": "Ozcelik", "given": "Tayfun", "initials": "T", "orcid": "0000-0001-5937-1082", "researcher": {"href": "https://publications.scilifelab.se/researcher/251a5fd386594151b80b5a3a71f6ab58.json"}}, {"family": "Morelle", "given": "Guillaume", "initials": "G", "orcid": "0000-0001-6511-1674", "researcher": {"href": "https://publications.scilifelab.se/researcher/2322f404a665499f93765a7df725e752.json"}}, {"family": "Zatz", "given": "Mayana", "initials": "M", "orcid": "0000-0003-3970-8025", "researcher": {"href": "https://publications.scilifelab.se/researcher/6a7d374fcc564d53bbbb44c93b39a771.json"}}, {"family": "Ng", "given": "Lisa F P", "initials": "LFP", "orcid": "0000-0003-4071-5222", "researcher": {"href": "https://publications.scilifelab.se/researcher/7101c7e624d0474490e91c012b82edd8.json"}}, {"family": "Lye", "given": "David Chien", "initials": "DC", "orcid": "0000-0003-0324-0205", "researcher": {"href": "https://publications.scilifelab.se/researcher/a2136a881c4f444da8f99c2449d7e7a8.json"}}, {"family": "Young", "given": "Barnaby Edward", "initials": "BE", "orcid": "0000-0003-1010-2230", "researcher": {"href": "https://publications.scilifelab.se/researcher/15060b7f79914eb4a8fd444845a4481b.json"}}, {"family": "Leo", "given": "Yee-Sin", "initials": "YS", "orcid": "0000-0003-4978-5825", "researcher": {"href": "https://publications.scilifelab.se/researcher/062808131e7c4a6d8182b38c9faf02b5.json"}}, {"family": "Dalgard", "given": "Clifton L", "initials": "CL", "orcid": "0000-0003-2025-8239", "researcher": {"href": "https://publications.scilifelab.se/researcher/5476c12921064b89bd069f7942c40b71.json"}}, {"family": "Lifton", "given": "Richard P", "initials": "RP", "orcid": "0000-0002-5745-5984", "researcher": {"href": "https://publications.scilifelab.se/researcher/4647504f628a491db0bdade92041edf3.json"}}, {"family": "Renia", "given": "Laurent", "initials": "L", "orcid": "0000-0003-0349-1557", "researcher": {"href": "https://publications.scilifelab.se/researcher/501358ed51784f629bf659900a768926.json"}}, {"family": "Meyts", "given": "Isabelle", "initials": "I", "orcid": "0000-0003-1214-0302", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfde01a48b334b2a896597ac69be80c8.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E", "orcid": "0000-0002-7358-9157", "researcher": {"href": "https://publications.scilifelab.se/researcher/2667361dc2e7417bb94bfc89bf425cc6.json"}}, {"family": "Hammarstr\u00f6m", "given": "Lennart", "initials": "L", "orcid": "0000-0002-8635-9609", "researcher": {"href": "https://publications.scilifelab.se/researcher/542d61d71652421f8dda0f0154fe063b.json"}}, {"family": "Pan-Hammarstr\u00f6m", "given": "Qiang", "initials": "Q", "orcid": "0000-0003-1990-8804", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9d3baa27411425a8b8f63f3c3230964.json"}}, {"family": "Boisson", "given": "Bertrand", "initials": "B", "orcid": "0000-0001-5240-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c47acbcc3346bcb65102b534b25cc8.json"}}, {"family": "Bastard", "given": "Paul", "initials": "P", "orcid": "0000-0002-5926-8437", "researcher": {"href": "https://publications.scilifelab.se/researcher/3891533a59dc4185ba934b16e416e6ce.json"}}, {"family": "Su", "given": "Helen C", "initials": "HC", "orcid": "0000-0002-5582-9110", "researcher": {"href": "https://publications.scilifelab.se/researcher/5f3b00f2707541b39b2205d70fd2d6f7.json"}}, {"family": "Boisson-Dupuis", "given": "St\u00e9phanie", "initials": "S", "orcid": "0000-0002-7115-116X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5584eef132004c55a120c70d9a9f9eee.json"}}, {"family": "Abel", "given": "Laurent", "initials": "L", "orcid": "0000-0001-7016-6493", "researcher": {"href": "https://publications.scilifelab.se/researcher/24ef4ca1eb3a4b1bbee73f07cd64fe92.json"}}, {"family": "Rice", "given": "Charles M", "initials": "CM", "orcid": "0000-0003-3087-8079", "researcher": {"href": "https://publications.scilifelab.se/researcher/34f03294e8e748779a10ecfcb1bf66b2.json"}}, {"family": "Zhang", "given": "Shen-Ying", "initials": "SY", "orcid": "0000-0002-9449-3672", "researcher": {"href": "https://publications.scilifelab.se/researcher/590822f879bb49b7bac24d2c89bf5a12.json"}}, {"family": "Cobat", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0001-7209-6257", "researcher": {"href": "https://publications.scilifelab.se/researcher/eaba2f9452294eec89161b589d96ff29.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": "2022-08-01", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "219", "issue": "8", "issn-l": "0022-1007"}, "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 \u00d7 10-11) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie \u223c10% of hospitalizations for COVID-19 pneumonia in children.", "doi": "10.1084/jem.20220131", "pmid": "35708626", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9206114"}, {"db": "pii", "key": "213287"}], "notes": [], "created": "2022-11-30T05:59:43.223Z", "modified": "2022-11-30T05:59:44.099Z"}]}