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"Herv\u00e9", "initials": "H", "orcid": "0000-0003-4309-8338", "researcher": {"href": "https://publications.scilifelab.se/researcher/4045e579b374436294f5ef4811fe6fc3.json"}}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3bcef4c205904e5db9e36f3aadaa13bb.json"}}, {"family": "Courtois", "given": "Gilles", "initials": "G", "orcid": "0000-0003-3117-9595", "researcher": {"href": "https://publications.scilifelab.se/researcher/8f0a98c946c9408887e40f6e73f156c2.json"}}, {"family": "Bastard", "given": "Paul", "initials": "P", "orcid": "0000-0002-5926-8437", "researcher": {"href": "https://publications.scilifelab.se/researcher/3891533a59dc4185ba934b16e416e6ce.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N", "orcid": "0000-0002-6163-9540", "researcher": {"href": "https://publications.scilifelab.se/researcher/13ceacb17b7448709f9bfcd593bec1e2.json"}}, {"family": "Anderson", "given": "Mark S", "initials": "MS", "orcid": "0000-0002-3093-4758", "researcher": {"href": "https://publications.scilifelab.se/researcher/4276efc31c1d4dbaaa242f11ef60c51e.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": "2024-11-04", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "221", "issue": "11", "issn-l": "0022-1007"}, "abstract": "Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pigmenti (IP), heterozygous for loss-of-function (LOF) NEMO variants, from 99 kindreds in 10 countries. Forty-seven of these patients (36%) have auto-Abs neutralizing IFN-\u03b1 and/or IFN-\u03c9, a proportion 23 times higher than that for age-matched female controls. This proportion remains stable from the age of 6 years onward. On imaging, female patients with IP have a small, abnormally structured thymus. Auto-Abs against type I IFNs confer a predisposition to life-threatening viral diseases. By contrast, patients with IP lacking auto-Abs against type I IFNs are at no particular risk of viral disease. These results suggest that IP accelerates thymic involution, thereby underlying the production of auto-Abs neutralizing type I IFNs in at least a third of female patients with IP, predisposing them to life-threatening viral diseases.", "doi": "10.1084/jem.20231152", "pmid": "39352576", "labels": {"Autoimmunity and Serology Profiling": "Service"}, "xrefs": [{"db": "pii", "key": "277003"}], "notes": [], "created": "2024-10-03T15:01:34.155Z", "modified": "2024-10-03T15:01:41.828Z"}, {"entity": "publication", "iuid": "c7b2bce8f3f543bf922ab6f296d7a8e3", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c7b2bce8f3f543bf922ab6f296d7a8e3.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c7b2bce8f3f543bf922ab6f296d7a8e3"}}, "title": "Higher COVID-19 pneumonia risk associated with anti-IFN-\u03b1 than with anti-IFN-\u03c9 auto-Abs in children.", "authors": [{"family": "Bastard", "given": "Paul", "initials": "P", "orcid": "0000-0002-5926-8437", 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"initials": "TH", "orcid": "0000-0002-1853-9704", "researcher": {"href": "https://publications.scilifelab.se/researcher/a27f3f726f7546b7800c722348411cb9.json"}}, {"family": "Rodr\u00edguez-Gallego", "given": "Carlos", "initials": "C", "orcid": "0000-0002-4344-8644", "researcher": {"href": "https://publications.scilifelab.se/researcher/aec678307aa34522b7426edece581dc6.json"}}, {"family": "Soler-Palacin", "given": "Pere", "initials": "P", "orcid": "0000-0002-0346-5570", "researcher": {"href": "https://publications.scilifelab.se/researcher/20960027c9844261814be2d0e33f1130.json"}}, {"family": "Colobran", "given": "Roger", "initials": "R", "orcid": "0000-0002-5964-536X", "researcher": {"href": "https://publications.scilifelab.se/researcher/84ffe04eb4a0475b83daae502866f586.json"}}, {"family": "Tillmann", "given": "Vallo", "initials": "V", "orcid": "0000-0002-5279-4493", "researcher": {"href": "https://publications.scilifelab.se/researcher/ef49d1a9e8b14f3ab73df7645779727f.json"}}, {"family": "Neven", "given": "B\u00e9n\u00e9dicte", "initials": "B", "orcid": "0000-0001-8941-0935", "researcher": {"href": "https://publications.scilifelab.se/researcher/eefbcb79b7024cb3a887adc61c85c6bb.json"}}, {"family": "Trouillet-Assant", "given": "Sophie", "initials": "S", "orcid": "0000-0001-6439-4705", "researcher": {"href": "https://publications.scilifelab.se/researcher/86e4a0a41590427c99596196b5f7f108.json"}}, {"family": "Brodin", "given": "Petter", "initials": "P", "orcid": "0000-0002-8103-0046", "researcher": {"href": "https://publications.scilifelab.se/researcher/40097353cdb24e52bf2330eb687042bf.json"}}, {"family": "Abel", "given": "Laurent", "initials": "L", "orcid": "0000-0001-7016-6493", "researcher": {"href": "https://publications.scilifelab.se/researcher/24ef4ca1eb3a4b1bbee73f07cd64fe92.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E", "orcid": "0000-0002-7358-9157", "researcher": {"href": "https://publications.scilifelab.se/researcher/2667361dc2e7417bb94bfc89bf425cc6.json"}}, {"family": "Zhang", "given": "Qian", "initials": "Q", "orcid": "0000-0002-9040-3289", "researcher": {"href": "https://publications.scilifelab.se/researcher/5bee352280384ad99b180f4f4bac42f5.json"}}, {"family": "Martin\u00f3n-Torres", "given": "Federico", "initials": "F", "orcid": "0000-0002-9023-581X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7d6dabe5072b45d1a0835e6f92580df2.json"}}, {"family": "Salas", "given": "Antonio", "initials": "A", "orcid": "0000-0002-2336-702X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cff5626fdde3485d9205884417e810dd.json"}}, {"family": "G\u00f3mez-Carballa", "given": "Alberto", "initials": "A", "orcid": "0000-0003-0927-1272", "researcher": {"href": "https://publications.scilifelab.se/researcher/29ecdcf20e984ed7ac8b4468dac993ce.json"}}, {"family": "Gonzalez-Granado", "given": "Luis I", "initials": "LI", "orcid": "0000-0001-6917-8980", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd3d6c5bf02c4b3eb6dc260c283ee1ad.json"}}, {"family": "Kisand", "given": "Kai", "initials": "K", "orcid": "0000-0002-5426-4648", "researcher": {"href": "https://publications.scilifelab.se/researcher/f3f676eacf9544b5b06ec3aafbf29899.json"}}, {"family": "Okada", "given": "Satoshi", "initials": "S", "orcid": "0000-0002-4622-5657", "researcher": {"href": "https://publications.scilifelab.se/researcher/e2b6ede2a4284e61bce4c2634dbcc21c.json"}}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3bcef4c205904e5db9e36f3aadaa13bb.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": "2024-02-05", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "221", "issue": "2", "issn-l": "0022-1007"}, "abstract": "We found that 19 (10.4%) of 183 unvaccinated children hospitalized for COVID-19 pneumonia had autoantibodies (auto-Abs) neutralizing type I IFNs (IFN-\u03b12 in 10 patients: IFN-\u03b12 only in three, IFN-\u03b12 plus IFN-\u03c9 in five, and IFN-\u03b12, IFN-\u03c9 plus IFN-\u03b2 in two; IFN-\u03c9 only in nine patients). Seven children (3.8%) had Abs neutralizing at least 10 ng/ml of one IFN, whereas the other 12 (6.6%) had Abs neutralizing only 100 pg/ml. The auto-Abs neutralized both unglycosylated and glycosylated IFNs. We also detected auto-Abs neutralizing 100 pg/ml IFN-\u03b12 in 4 of 2,267 uninfected children (0.2%) and auto-Abs neutralizing IFN-\u03c9 in 45 children (2%). The odds ratios (ORs) for life-threatening COVID-19 pneumonia were, therefore, higher for auto-Abs neutralizing IFN-\u03b12 only (OR [95% CI] = 67.6 [5.7-9,196.6]) than for auto-Abs neutralizing IFN-\u03c9 only (OR [95% CI] = 2.6 [1.2-5.3]). ORs were also higher for auto-Abs neutralizing high concentrations (OR [95% CI] = 12.9 [4.6-35.9]) than for those neutralizing low concentrations (OR [95% CI] = 5.5 [3.1-9.6]) of IFN-\u03c9 and/or IFN-\u03b12.", "doi": "10.1084/jem.20231353", "pmid": "38175961", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10771097"}, {"db": "pii", "key": "276477"}], "notes": [], "created": "2024-11-28T18:23:52.122Z", "modified": "2024-11-28T18:23:56.100Z"}]}