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"orcid": "0000-0002-3439-2482", "researcher": {"href": "https://publications.scilifelab.se/researcher/152dc8084c1d4ba89ace373889bea81e.json"}}, {"family": "Luche", "given": "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": 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"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"}, {"entity": "publication", "iuid": "80543734f42047bd8b359d3a2c96c420", "links": {"self": {"href": "https://publications.scilifelab.se/publication/80543734f42047bd8b359d3a2c96c420.json"}, "display": {"href": "https://publications.scilifelab.se/publication/80543734f42047bd8b359d3a2c96c420"}}, "title": "Autoantibodies against type I IFNs in humans with alternative NF-\u03baB pathway deficiency.", "authors": [{"family": "Le Voyer", "given": "Tom", "initials": "T", "orcid": "0000-0002-7253-3135", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ae9aa653f874c2cb1c68a2deb9357b8.json"}}, {"family": "Parent", "given": "Audrey V", "initials": "AV", "orcid": "0000-0003-4506-6268", "researcher": {"href": "https://publications.scilifelab.se/researcher/553847cbdc524ebf9d064078ce5ea089.json"}}, {"family": "Liu", "given": "Xian", "initials": "X"}, {"family": "Cederholm", "given": "Axel", "initials": "A", "orcid": "0009-0006-5973-9637", "researcher": {"href": "https://publications.scilifelab.se/researcher/b2dffb2fd8e446d6a72c765602b97291.json"}}, {"family": "Gervais", "given": "Adrian", "initials": "A"}, {"family": "Rosain", "given": "J\u00e9r\u00e9mie", "initials": "J"}, {"family": "Nguyen", "given": "Tina", "initials": "T"}, {"family": "Perez Lorenzo", "given": "Malena", "initials": "M", "orcid": "0000-0002-7933-5211", "researcher": {"href": "https://publications.scilifelab.se/researcher/62baf0182c984c9081911a2c6b3b18c1.json"}}, {"family": "Rackaityte", "given": "Elze", "initials": "E", "orcid": "0000-0003-3889-8082", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ceee85bd2034a1892d6cbf35b7003b1.json"}}, {"family": "Rinchai", "given": "Darawan", "initials": "D"}, {"family": "Zhang", "given": "Peng", "initials": "P", "orcid": "0000-0002-6129-567X", "researcher": {"href": "https://publications.scilifelab.se/researcher/20fcd31c47a940e8b72a8eb8d6e2a63b.json"}}, {"family": "Bizien", "given": "Lucy", "initials": "L"}, {"family": "Hancioglu", "given": "Gonca", "initials": "G", "orcid": "0000-0003-4221-6232", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a9b9948d4114c17b7a86079fff8feb0.json"}}, {"family": "Ghillani-Dalbin", "given": "Pascale", "initials": "P"}, {"family": "Charuel", "given": "Jean-Luc", "initials": "JL"}, {"family": "Philippot", "given": "Quentin", "initials": "Q"}, {"family": "Gueye", "given": "Mame Sokhna", "initials": "MS", "orcid": "0000-0002-5533-7757", "researcher": {"href": "https://publications.scilifelab.se/researcher/6e4e7b2a590b40f7a49522746743a029.json"}}, {"family": "Maglorius Renkilaraj", "given": "Majistor Raj Luxman", "initials": "MRL"}, {"family": "Ogishi", "given": "Masato", "initials": "M"}, {"family": "Soud\u00e9e", "given": "Camille", "initials": "C"}, {"family": "Migaud", "given": "M\u00e9lanie", "initials": "M", "orcid": "0000-0003-3062-1214", "researcher": {"href": "https://publications.scilifelab.se/researcher/228bd855b47a47b3a04cfd7a72d6f24c.json"}}, {"family": "Rozenberg", "given": "Flore", "initials": "F"}, {"family": "Momenilandi", "given": "Mana", "initials": "M"}, {"family": "Riller", "given": "Quentin", "initials": "Q", "orcid": "0000-0003-3323-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/92e8a09e67774f298606f4397ae911c2.json"}}, {"family": "Imberti", "given": "Luisa", "initials": "L"}, {"family": "Delmonte", "given": "Ottavia M", "initials": "OM"}, {"family": "M\u00fcller", 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{"family": "COVID Human Genetic Effort", "given": "", "initials": ""}, {"family": "McLean", "given": "Catriona", "initials": "C"}, {"family": "Guffroy", "given": "Aur\u00e9lien", "initials": "A"}, {"family": "DeRisi", "given": "Joseph L", "initials": "JL"}, {"family": "Yu", "given": "David", "initials": "D"}, {"family": "Miller", "given": "Corey", "initials": "C", "orcid": "0000-0002-1291-0074", "researcher": {"href": "https://publications.scilifelab.se/researcher/456a306e949149db8f39e7355e663d59.json"}}, {"family": "Feng", "given": "Yi", "initials": "Y"}, {"family": "Guichard", "given": "Audrey", "initials": "A"}, {"family": "B\u00e9ziat", "given": "Vivien", "initials": "V", "orcid": "0000-0002-4020-824X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb59e3ecbbba41c98215a9424f82d70f.json"}}, {"family": "Bustamante", "given": "Jacinta", "initials": "J"}, {"family": "Pan-Hammarstr\u00f6m", "given": "Qiang", "initials": "Q", "orcid": "0000-0003-1990-8804", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9d3baa27411425a8b8f63f3c3230964.json"}}, {"family": "Zhang", "given": "Yu", "initials": "Y"}, {"family": "Rosen", "given": "Lindsey B", "initials": "LB"}, {"family": "Holland", "given": "Steve M", "initials": "SM", "orcid": "0000-0003-3207-5464", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a22fc2635ad4265a82ae40602c502d9.json"}}, {"family": "Bosticardo", "given": "Marita", "initials": "M"}, {"family": "Kenney", "given": "Heather", "initials": "H"}, {"family": "Castagnoli", "given": "Riccardo", "initials": "R", "orcid": "0000-0003-0029-9383", "researcher": {"href": "https://publications.scilifelab.se/researcher/c3edb88b79604a85959ae5b97ca93f1c.json"}}, {"family": "Slade", "given": "Charlotte A", "initials": "CA"}, {"family": "Boztu\u011f", "given": "Kaan", "initials": "K"}, {"family": "Mahlaoui", "given": "Nizar", "initials": "N"}, {"family": "Latour", "given": "Sylvain", "initials": "S"}, {"family": "Abraham", "given": "Roshini S", "initials": "RS"}, {"family": "Lougaris", "given": "Vassilios", "initials": "V"}, {"family": "Hauck", "given": "Fabian", "initials": "F", "orcid": "0000-0001-9644-2003", "researcher": {"href": "https://publications.scilifelab.se/researcher/ae7796c771944fb6ba4f8aeb5537d0c2.json"}}, {"family": "Sediva", "given": "Anna", "initials": "A", "orcid": "0000-0001-7730-2304", "researcher": {"href": "https://publications.scilifelab.se/researcher/ed895922e0e543dd81d9fc1d8aaab496.json"}}, {"family": "Atschekzei", "given": "Faranaz", "initials": "F"}, {"family": "Sogkas", "given": "Georgios", "initials": "G"}, {"family": "Poli", "given": "M Cecilia", "initials": "MC", "orcid": "0000-0001-6817-0573", "researcher": {"href": "https://publications.scilifelab.se/researcher/845380b34c2541aca13852a9ebd8d1e2.json"}}, {"family": "Slatter", "given": "Mary A", "initials": "MA"}, {"family": "Palterer", "given": "Boaz", "initials": "B"}, {"family": "Keller", "given": 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{"family": "Ciznar", "given": "Peter", "initials": "P", "orcid": "0000-0003-0566-1644", "researcher": {"href": "https://publications.scilifelab.se/researcher/3c31f220a302455994db57ce8bc34d3d.json"}}, {"family": "Dalal", "given": "Ilan", "initials": "I"}, {"family": "Aladjidi", "given": "Nathalie", "initials": "N"}, {"family": "Hie", "given": "Miguel", "initials": "M"}, {"family": "Lazaro", "given": "Estibaliz", "initials": "E", "orcid": "0000-0002-4206-7399", "researcher": {"href": "https://publications.scilifelab.se/researcher/307b87ae02984fd7a652ed511d029a8a.json"}}, {"family": "Franco", "given": "Jose", "initials": "J", "orcid": "0000-0001-5664-6415", "researcher": {"href": "https://publications.scilifelab.se/researcher/d0b90161f1ac434caa648101eae0a93f.json"}}, {"family": "Keles", "given": "Sevgi", "initials": "S", "orcid": "0000-0001-7344-8947", "researcher": {"href": "https://publications.scilifelab.se/researcher/0b137fd96c0842288b660de7b4e0dfa7.json"}}, {"family": "Malphettes", "given": "Marion", "initials": "M"}, {"family": "Pasquet", "given": "Marlene", "initials": "M"}, {"family": "Maccari", "given": "Maria Elena", "initials": "ME"}, {"family": "Meinhardt", "given": "Andrea", "initials": "A", "orcid": "0000-0002-7464-0751", "researcher": {"href": "https://publications.scilifelab.se/researcher/42c39e0a964c4c748bea6ab43c9723b3.json"}}, {"family": "Ikinciogullari", "given": "Aydan", "initials": "A"}, {"family": "Shahrooei", "given": "Mohammad", "initials": "M"}, {"family": "Celmeli", "given": "Fatih", "initials": "F", "orcid": "0000-0002-2983-5058", "researcher": {"href": "https://publications.scilifelab.se/researcher/d10a5e911d694b9690bab499e0bbef99.json"}}, {"family": "Frosk", "given": "Patrick", "initials": "P"}, {"family": "Goodnow", "given": "Christopher C", "initials": "CC", "orcid": "0000-0001-5296-6155", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4783c37a1ac4d528841846dbdbcc05c.json"}}, {"family": "Gray", "given": "Paul E", "initials": "PE", "orcid": "0000-0003-2057-3968", "researcher": {"href": "https://publications.scilifelab.se/researcher/b5eca9282b664b5bbcc3510efc31c578.json"}}, {"family": "Belot", "given": "Alexandre", "initials": "A", "orcid": "0000-0003-4902-5332", "researcher": {"href": "https://publications.scilifelab.se/researcher/155056471c474a8ca255b7cefd8c5cad.json"}}, {"family": "Kuehn", "given": "Hye Sun", "initials": "HS"}, {"family": "Rosenzweig", "given": "Sergio D", "initials": "SD"}, {"family": "Miyara", "given": "Makoto", "initials": "M"}, {"family": "Licciardi", "given": "Francesco", "initials": "F"}, {"family": "Servettaz", "given": "Am\u00e9lie", "initials": "A"}, {"family": "Barlogis", "given": "Vincent", "initials": "V"}, {"family": "Le Guenno", "given": "Guillaume", "initials": "G"}, {"family": "Herrmann", "given": "Vera-Maria", "initials": "VM"}, {"family": "Kuijpers", "given": "Taco", "initials": "T"}, {"family": "Ducoux", "given": "Gr\u00e9goire", "initials": "G"}, {"family": "Sarrot-Reynauld", "given": "Fran\u00e7oise", "initials": "F"}, {"family": "Schuetz", "given": "Catharina", "initials": "C"}, {"family": "Cunningham-Rundles", "given": "Charlotte", "initials": "C", "orcid": "0000-0003-0725-0320", "researcher": {"href": "https://publications.scilifelab.se/researcher/6f191aed462e40dba62ed32a771bbb0f.json"}}, {"family": "Rieux-Laucat", "given": "Fr\u00e9d\u00e9ric", "initials": "F", "orcid": "0000-0001-7858-7866", "researcher": {"href": "https://publications.scilifelab.se/researcher/abbce991c33c4908a575c148214fcc67.json"}}, {"family": "Tangye", "given": "Stuart G", "initials": "SG", "orcid": "0000-0002-5360-5180", "researcher": {"href": "https://publications.scilifelab.se/researcher/1e3fa03cfc304a8aa0262e5f8c51665d.json"}}, {"family": "Sobacchi", "given": "Cristina", "initials": "C"}, {"family": "Doffinger", "given": "Rainer", "initials": "R"}, {"family": "Warnatz", "given": "Klaus", "initials": "K"}, {"family": "Grimbacher", "given": "Bodo", "initials": "B"}, {"family": "Fieschi", "given": "Claire", "initials": "C"}, {"family": "Berteloot", "given": "Laureline", "initials": "L", "orcid": "0000-0001-9681-3142", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa0ce699420749dc97617accb080b2e8.json"}}, {"family": "Bryant", "given": "Vanessa L", "initials": "VL"}, {"family": "Trouillet Assant", "given": "Sophie", "initials": "S"}, {"family": "Su", "given": "Helen", "initials": "H", "orcid": "0000-0002-5582-9110", "researcher": {"href": "https://publications.scilifelab.se/researcher/5f3b00f2707541b39b2205d70fd2d6f7.json"}}, {"family": "Neven", "given": "Benedicte", "initials": "B"}, {"family": "Abel", "given": "Laurent", "initials": "L"}, {"family": "Zhang", "given": "Qian", "initials": "Q"}, {"family": "Boisson", "given": "Bertrand", "initials": "B", "orcid": "0000-0001-5240-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c47acbcc3346bcb65102b534b25cc8.json"}}, {"family": "Cobat", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0001-7209-6257", "researcher": {"href": "https://publications.scilifelab.se/researcher/eaba2f9452294eec89161b589d96ff29.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E"}, {"family": "Kampe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Bastard", "given": "Paul", "initials": "P"}, {"family": "Roifman", "given": "Chaim M", "initials": "CM"}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Notarangelo", "given": "Luigi D", "initials": "LD", "orcid": "0000-0002-8335-0262", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8d346e44c2d443ba3da3fcf2725b96c.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"}}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3bcef4c205904e5db9e36f3aadaa13bb.json"}}], "type": "journal article", "published": "2023-11-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "623", "issue": "7988", "pages": "803-813", "issn-l": "0028-0836"}, "abstract": "Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-\u03baB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-\u03baB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (I\u03baB\u03b4 activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of I\u03baB\u03b4 (hereafter, p52LOF/I\u03baB\u03b4GOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/I\u03baB\u03b4LOF) or gain-of-function of p52 (hereafter, p52GOF/I\u03baB\u03b4LOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-\u03baB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-\u03baB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.", "doi": "10.1038/s41586-023-06717-x", "pmid": "37938781", "labels": {"Autoimmunity and Serology Profiling": "Service", "Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10665196"}, {"db": "pii", "key": "10.1038/s41586-023-06717-x"}], "notes": [], "created": "2023-11-16T13:27:25.515Z", "modified": "2024-11-28T18:23:58.185Z"}]}