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"orcid": "0000-0002-0114-1978", "researcher": {"href": "https://publications.scilifelab.se/researcher/b0012dd9120a421ebdda3f5da528ec16.json"}}, {"family": "Tangye", "given": "Stuart G", "initials": "SG", "orcid": "0000-0002-5360-5180", "researcher": {"href": "https://publications.scilifelab.se/researcher/1e3fa03cfc304a8aa0262e5f8c51665d.json"}}, {"family": "Sallusto", "given": "Federica", "initials": "F", "orcid": "0000-0003-3750-2752", "researcher": {"href": "https://publications.scilifelab.se/researcher/cdca95394616420ba260e86d35809977.json"}}, {"family": "Boisson-Dupuis", "given": "St\u00e9phanie", "initials": "S", "orcid": "0000-0002-7115-116X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5584eef132004c55a120c70d9a9f9eee.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": "2025-05-30", "journal": {"title": "Sci Immunol", "issn": "2470-9468", "volume": "10", "issue": "107", "pages": "eads7377", "issn-l": null}, "abstract": "CD4+ T cells are indispensable for optimal immunity to Mycobacterium tuberculosis (M.tb), a pathogen that triggers tuberculosis (TB) in humans. M.tb-specific human CD4+ T cells are known to polarize toward an interferon-\u03b3 (IFN-\u03b3)-producing, CCR4-CCR6+CXCR3+T-bet+ROR\u03b3T+ T helper 1* cell (TH1*cell) memory phenotype. We report that autosomal recessive deficiency of the human lymphocytic surface receptor LY9 (SLAMF3 and CD229), which is found in less than 10-5 individuals in the general population, underlies TB in three unrelated patients due to selective impairment in IFN-\u03b3 production by TH1* cells. TH1* cells express higher levels of LY9 than other CD4+ T cells. Mechanistically, LY9 polarizes na\u00efve CD4+ T cells toward memory TH1* cells by inducing T-bet via signaling lymphocytic activation molecule (SLAM)-associated protein (SAP) and ROR\u03b3T (thymus-specific retinoid-related orphan receptor \u03b3) without SAP. LY9 costimulation enhances TCR-driven IFN-\u03b3 production of memory TH1*, but not TH1, cells in a T cell-intrinsic manner via NFAT1 (nuclear factor of activated T cells 1) and ROR\u03b3T. LY9 is likely to govern an optimal TH1* cell- and IFN-\u03b3-dependent protective immunity to M.tb in humans.", "doi": "10.1126/sciimmunol.ads7377", "pmid": "40446017", "labels": {"Autoimmunity and Serology Profiling": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS2092213"}, {"db": "pmc", "key": "PMC12242830"}], "notes": [], "created": "2025-09-10T08:24:54.248Z", "modified": "2025-09-10T08:24:55.981Z"}, {"entity": "publication", "iuid": "5a47b007d10f4537ab374a8782b3030c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5a47b007d10f4537ab374a8782b3030c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5a47b007d10f4537ab374a8782b3030c"}}, "title": "Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.", "authors": [{"family": "Rosain", "given": "J\u00e9r\u00e9mie", "initials": "J", "orcid": "0000-0002-2822-161X", "researcher": {"href": 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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": "85421d5b9d04415ba19ebdb36eeaee27", "links": {"self": {"href": "https://publications.scilifelab.se/publication/85421d5b9d04415ba19ebdb36eeaee27.json"}, "display": {"href": "https://publications.scilifelab.se/publication/85421d5b9d04415ba19ebdb36eeaee27"}}, "title": "Inherited human RelB deficiency impairs innate and adaptive immunity to infection.", "authors": [{"family": "Le Voyer", "given": "Tom", "initials": "T"}, {"family": "Maglorius Renkilaraj", "given": "Majistor Raj Luxman", "initials": "MRL"}, {"family": "Moriya", "given": "Kunihiko", "initials": "K"}, {"family": "P\u00e9rez Lorenzo", "given": "Malena", "initials": "M"}, {"family": "Nguyen", "given": "Tina", "initials": "T"}, {"family": "Gao", "given": "Liwei", "initials": "L"}, {"family": "Rubin", "given": "Tamar", "initials": "T"}, {"family": "Cederholm", "given": "Axel", "initials": "A"}, {"family": "Ogishi", "given": "Masato", "initials": "M", "orcid": "0000-0003-2421-7389", "researcher": {"href": "https://publications.scilifelab.se/researcher/d9205246af72422f993f696135d03d00.json"}}, {"family": "Arango-Franco", "given": "Carlos A", "initials": "CA"}, {"family": "B\u00e9ziat", "given": "Vivien", "initials": "V", "orcid": "0000-0002-4020-824X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb59e3ecbbba41c98215a9424f82d70f.json"}}, {"family": "L\u00e9vy", "given": "Romain", "initials": "R"}, {"family": "Migaud", "given": "M\u00e9lanie", "initials": "M"}, {"family": "Rapaport", "given": "Franck", "initials": "F"}, {"family": "Itan", "given": "Yuval", "initials": "Y"}, {"family": "Deenick", "given": "Elissa K", "initials": "EK"}, {"family": "Cortese", "given": "Irene", "initials": "I"}, {"family": "Lisco", "given": "Andrea", "initials": "A"}, {"family": "Boztug", "given": "Kaan", "initials": "K"}, {"family": "Abel", "given": "Laurent", "initials": "L"}, {"family": "Boisson-Dupuis", "given": "St\u00e9phanie", "initials": "S"}, {"family": "Boisson", "given": "Bertrand", "initials": "B", "orcid": "0000-0001-5240-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c47acbcc3346bcb65102b534b25cc8.json"}}, {"family": "Frosk", "given": "Patrick", "initials": "P"}, {"family": "Ma", "given": "Cindy S", "initials": "CS", "orcid": "0000-0001-5387-8413", "researcher": {"href": "https://publications.scilifelab.se/researcher/398f17ef657242a1a091b04d05388cf9.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Celmeli", "given": "Fatih", "initials": "F", "orcid": "0000-0002-2983-5058", "researcher": {"href": "https://publications.scilifelab.se/researcher/d10a5e911d694b9690bab499e0bbef99.json"}}, {"family": "Casanova", "given": "Jean-Laurent", "initials": "JL", "orcid": "0000-0002-7782-4169", "researcher": {"href": "https://publications.scilifelab.se/researcher/009e2306468648c08fb1eea319f0c488.json"}}, {"family": "Tangye", "given": "Stuart G", "initials": "SG"}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3bcef4c205904e5db9e36f3aadaa13bb.json"}}], "type": "journal article", "published": "2024-09-10", "journal": {"title": "Proc. Natl. Acad. Sci. U.S.A.", "issn": "1091-6490", "volume": "121", "issue": "37", "pages": "e2321794121", "issn-l": "0027-8424"}, "abstract": "We report two unrelated adults with homozygous (P1) or compound heterozygous (P2) private loss-of-function variants of V-Rel Reticuloendotheliosis Viral Oncogene Homolog B (RELB). The resulting deficiency of functional RelB impairs the induction of NFKB2 mRNA and NF-\u03baB2 (p100/p52) protein by lymphotoxin in the fibroblasts of the patients. These defects are rescued by transduction with wild-type RELB complementary DNA (cDNA). By contrast, the response of RelB-deficient fibroblasts to Tumor Necrosis Factor (TNF) or IL-1\u03b2 via the canonical NF-\u03baB pathway remains intact. P1 and P2 have low proportions of na\u00efve CD4+ and CD8+ T cells and of memory B cells. Moreover, their na\u00efve B cells cannot differentiate into immunoglobulin G (IgG)- or immunoglobulin A (IgA)-secreting cells in response to CD40L/IL-21, and the development of IL-17A/F-producing T cells is strongly impaired in vitro. Finally, the patients produce neutralizing autoantibodies against type I interferons (IFNs), even after hematopoietic stem cell transplantation, attesting to a persistent dysfunction of thymic epithelial cells in T cell selection and central tolerance to some autoantigens. Thus, inherited human RelB deficiency disrupts the alternative NF-\u03baB pathway, underlying a T- and B cell immunodeficiency, which, together with neutralizing autoantibodies against type I IFNs, confers a predisposition to viral, bacterial, and fungal infections.", "doi": "10.1073/pnas.2321794121", "pmid": "39231201", "labels": {"Autoimmunity and Serology Profiling": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11406260"}], "notes": [], "created": "2024-09-23T11:59:51.904Z", "modified": "2024-09-23T11:59:52.726Z"}, {"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", "researcher": {"href": "https://publications.scilifelab.se/researcher/3891533a59dc4185ba934b16e416e6ce.json"}}, {"family": "Gervais", "given": "Adrian", "initials": "A", "orcid": "0000-0002-1083-5787", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4d47775a4da4ee6ac0ff7da16c0155c.json"}}, {"family": "Taniguchi", "given": "Maki", "initials": "M", "orcid": "0009-0005-4035-1360", "researcher": {"href": "https://publications.scilifelab.se/researcher/b4f5104732454dee96cd97046cee0bf1.json"}}, {"family": "Saare", "given": "Liisa", "initials": "L", "orcid": "0000-0003-1991-4120", "researcher": {"href": "https://publications.scilifelab.se/researcher/6a502a9c05184e8db12221d1d6dedff5.json"}}, {"family": "S\u00e4rekannu", "given": "Karita", "initials": "K", "orcid": "0000-0002-5984-668X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4437ac1b82e46f3ba2779e1b918e1bb.json"}}, {"family": "Le Voyer", "given": "Tom", "initials": "T", "orcid": "0000-0002-7253-3135", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ae9aa653f874c2cb1c68a2deb9357b8.json"}}, {"family": "Philippot", "given": "Quentin", "initials": "Q", "orcid": "0000-0003-3429-9605", "researcher": {"href": "https://publications.scilifelab.se/researcher/49fea9565657416ea5b12e31ff62177c.json"}}, {"family": "Rosain", "given": "J\u00e9r\u00e9mie", "initials": "J", "orcid": "0000-0002-2822-161X", "researcher": {"href": "https://publications.scilifelab.se/researcher/9648145c59af4d31b806ed93f5e2afd7.json"}}, {"family": "Bizien", "given": "Lucy", "initials": "L", "orcid": "0000-0001-9163-9122", "researcher": {"href": "https://publications.scilifelab.se/researcher/61953873d0704a21beb1769e160a8f9c.json"}}, {"family": "Asano", "given": "Takaki", "initials": "T", "orcid": "0000-0003-1424-2433", "researcher": {"href": "https://publications.scilifelab.se/researcher/ac5194017554453e88b16a4db83ff29a.json"}}, {"family": "Garcia-Prat", "given": "Marina", "initials": "M", "orcid": "0000-0001-5387-1908", "researcher": {"href": "https://publications.scilifelab.se/researcher/438dff8dd8314981b01a0f6fc182a211.json"}}, {"family": "Parra-Mart\u00ednez", "given": "Alba", "initials": "A", "orcid": "0000-0002-9564-8912", "researcher": {"href": "https://publications.scilifelab.se/researcher/5a2d0e7250da436fb84d7477f6b6ed3b.json"}}, {"family": "Migaud", "given": "M\u00e9lanie", "initials": "M", "orcid": "0000-0003-3062-1214", "researcher": {"href": "https://publications.scilifelab.se/researcher/228bd855b47a47b3a04cfd7a72d6f24c.json"}}, {"family": "Tsumura", "given": "Miyuki", "initials": "M", "orcid": "0000-0002-8272-9588", "researcher": {"href": "https://publications.scilifelab.se/researcher/0000b80ead774d0bae251fe78c315a7a.json"}}, {"family": "Conti", "given": "Francesca", "initials": "F", "orcid": "0000-0002-3665-8926", "researcher": {"href": "https://publications.scilifelab.se/researcher/8e3f905726d543d08b62b556f2943d63.json"}}, {"family": "Belot", "given": "Alexandre", "initials": "A", "orcid": "0000-0003-4902-5332", "researcher": {"href": "https://publications.scilifelab.se/researcher/155056471c474a8ca255b7cefd8c5cad.json"}}, {"family": "Rivi\u00e8re", "given": "Jacques G", "initials": "JG", "orcid": "0000-0003-1055-2063", "researcher": {"href": "https://publications.scilifelab.se/researcher/d146bbb11f174a34983e9134b62cfcc1.json"}}, {"family": "Morio", "given": "Tomohiro", "initials": "T", "orcid": "0000-0002-9259-1025", "researcher": {"href": "https://publications.scilifelab.se/researcher/67a8f5911f5243ea81e1ce2e8fa31731.json"}}, {"family": "Tanaka", "given": "Junko", "initials": "J", "orcid": "0000-0002-5669-4051", "researcher": {"href": "https://publications.scilifelab.se/researcher/d260b1beb1134645ab9c900013aef38c.json"}}, {"family": "Javouhey", "given": "Etienne", "initials": "E", "orcid": "0000-0002-6480-0758", 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"0000-0003-1123-4788", "researcher": {"href": "https://publications.scilifelab.se/researcher/d0afdcf4c2d04676a5993ec194c7dd45.json"}}, {"family": "Escoda", "given": "Simon", "initials": "S", "orcid": "0000-0001-9328-1945", "researcher": {"href": "https://publications.scilifelab.se/researcher/e8fbe55b7fcf4c2b8ab8622923818f25.json"}}, {"family": "Husain", "given": "Maya", "initials": "M", "orcid": "0000-0001-7704-9628", "researcher": {"href": "https://publications.scilifelab.se/researcher/40d238c2b1514e11a79228ed2f3a7d0b.json"}}, {"family": "Pan-Hammarstr\u00f6m", "given": "Qiang", "initials": "Q", "orcid": "0000-0003-1990-8804", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9d3baa27411425a8b8f63f3c3230964.json"}}, {"family": "Hammarstr\u00f6m", "given": "Lennart", "initials": "L", "orcid": "0000-0002-8635-9609", "researcher": {"href": "https://publications.scilifelab.se/researcher/542d61d71652421f8dda0f0154fe063b.json"}}, {"family": "Ahlijah", "given": "Gloria", 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"researcher": {"href": "https://publications.scilifelab.se/researcher/8648beaa7c8545f0945c3eaca9361517.json"}}, {"family": "Tatsi", "given": "Elizabeth-Barbara", "initials": "EB", "orcid": "0000-0001-7325-6195", "researcher": {"href": "https://publications.scilifelab.se/researcher/22bc1b3117e74cee8150cc5f4d83bee4.json"}}, {"family": "Filippatos", "given": "Filippos", "initials": "F", "orcid": "0000-0003-2775-3670", "researcher": {"href": "https://publications.scilifelab.se/researcher/3954c527cfc043eba9f6761a5e17bdb7.json"}}, {"family": "Rodriguez-Palmero", "given": "Agusti", "initials": "A", "orcid": "0000-0002-4141-5515", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee9ef6614a5d4eb0a862501716c5d04e.json"}}, {"family": "Troya", "given": "Jesus", "initials": "J", "orcid": "0000-0001-7323-114X", "researcher": {"href": "https://publications.scilifelab.se/researcher/de720f94a6d64ec6974e22199d9c3099.json"}}, {"family": "Tipu", "given": "Imran", "initials": "I", "orcid": "0000-0002-9317-9729", "researcher": {"href": "https://publications.scilifelab.se/researcher/fc462aa909424c4197cf8ffff68fb76d.json"}}, {"family": "Meyts", "given": "Isabelle", "initials": "I", "orcid": "0000-0003-1214-0302", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfde01a48b334b2a896597ac69be80c8.json"}}, {"family": "Roussel", "given": "Lucie", "initials": "L", "orcid": "0000-0001-5355-702X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7928e87749644ce3813a6aebe04485ec.json"}}, {"family": "Ostrowski", "given": "Sisse Rye", "initials": "SR", "orcid": "0000-0001-5288-3851", "researcher": {"href": "https://publications.scilifelab.se/researcher/c09b4c11e2a448319ce45bbf54967c56.json"}}, {"family": "Schidlowski", "given": "Laire", "initials": "L", "orcid": "0000-0002-0452-0164", "researcher": {"href": "https://publications.scilifelab.se/researcher/b1fb32f9f0bd4719bf34e07643915060.json"}}, {"family": "Prando", "given": "Carolina", "initials": "C", "orcid": "0000-0002-9570-9770", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8a2b76bf8e44cc6814a5f67d3f0f517.json"}}, {"family": "Condino-Neto", "given": "Antonio", "initials": "A", "orcid": "0000-0002-1069-3117", "researcher": {"href": "https://publications.scilifelab.se/researcher/3984728e952c493a92f8ded07577393c.json"}}, {"family": "Cheikh", "given": "Nathalie", "initials": "N", "orcid": "0000-0002-3403-3842", "researcher": {"href": "https://publications.scilifelab.se/researcher/609c35ecb5e34c7b8d3e9d89bf124d36.json"}}, {"family": "Bousfiha", "given": "Ahmed A", "initials": "AA", "orcid": "0000-0002-5011-9873", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0206681da8543a39287d5b5d22f71fb.json"}}, {"family": "El Bakkouri", "given": "Jalila", "initials": "J", "orcid": "0000-0003-2303-3369", "researcher": {"href": "https://publications.scilifelab.se/researcher/c25dd76f2429473095612b1dac937303.json"}}, {"family": "COVID\n                                        Clinicians", "given": "", "initials": ""}, {"family": "GEN-COVID Study Group", "given": "", "initials": ""}, {"family": "COVID Human Genetic\n                                        Effort", "given": "", "initials": ""}, {"family": "Peterson", "given": "P\u00e4rt", "initials": "P", "orcid": "0000-0001-6755-791X", "researcher": {"href": "https://publications.scilifelab.se/researcher/62e117ce0c4847c592011f09888326a3.json"}}, {"family": "Pujol", "given": "Aurora", "initials": "A", "orcid": "0000-0002-9606-0600", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe299fbf2c8242d8b577f351af238129.json"}}, {"family": "L\u00e9vy", "given": "Romain", "initials": "R", "orcid": "0000-0002-6393-0198", "researcher": {"href": "https://publications.scilifelab.se/researcher/2b6ff57ca5144bbbae63f6ae4ccae910.json"}}, {"family": "Quartier", "given": "Pierre", "initials": "P", "orcid": "0000-0002-1769-549X", "researcher": 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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"}, {"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"}, {"entity": "publication", "iuid": "151d3332ae9c49368d7ba59ed44e18ed", "links": {"self": {"href": "https://publications.scilifelab.se/publication/151d3332ae9c49368d7ba59ed44e18ed.json"}, "display": {"href": "https://publications.scilifelab.se/publication/151d3332ae9c49368d7ba59ed44e18ed"}}, "title": "Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.", "authors": [{"family": "Campbell", "given": "Tessa Mollie", "initials": "TM", "orcid": "0000-0002-7737-2123", "researcher": {"href": "https://publications.scilifelab.se/researcher/649b3cbdbb894026ba87a79e6834e651.json"}}, {"family": "Liu", "given": "Zhiyong", "initials": "Z", "orcid": "0000-0001-6473-348X", "researcher": {"href": "https://publications.scilifelab.se/researcher/b494af73b8ff4a7b89c23d8c524ed55a.json"}}, {"family": "Zhang", "given": "Qian", "initials": "Q", "orcid": "0000-0002-9040-3289", "researcher": {"href": "https://publications.scilifelab.se/researcher/5bee352280384ad99b180f4f4bac42f5.json"}}, {"family": "Moncada-Velez", "given": "Marcela", "initials": "M", "orcid": "0000-0002-3073-5345", "researcher": {"href": "https://publications.scilifelab.se/researcher/2bf242c5e03d4aec82e164cc56a45bc8.json"}}, {"family": "Covill", "given": "Laura E", "initials": "LE", "orcid": "0000-0002-5086-9877", "researcher": {"href": "https://publications.scilifelab.se/researcher/cfce7039ff644dd89a5c520c32becb39.json"}}, {"family": "Zhang", "given": "Peng", "initials": "P", "orcid": "0000-0002-6129-567X", "researcher": {"href": "https://publications.scilifelab.se/researcher/20fcd31c47a940e8b72a8eb8d6e2a63b.json"}}, {"family": "Alavi Darazam", "given": "Ilad", "initials": "I", "orcid": "0000-0002-4440-335X", "researcher": {"href": "https://publications.scilifelab.se/researcher/0a54c23ace77400db0cb4e1bf829bb43.json"}}, {"family": "Bastard", "given": "Paul", "initials": "P", "orcid": "0000-0002-5926-8437", "researcher": {"href": "https://publications.scilifelab.se/researcher/3891533a59dc4185ba934b16e416e6ce.json"}}, {"family": "Bizien", "given": "Lucy", "initials": "L", "orcid": "0000-0001-9163-9122", "researcher": {"href": "https://publications.scilifelab.se/researcher/61953873d0704a21beb1769e160a8f9c.json"}}, {"family": "Bucciol", "given": "Giorgia", "initials": "G", "orcid": "0000-0001-5004-0738", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2100e03e54c43349bf6191f3e79caeb.json"}}, {"family": "Lind Enoksson", "given": "Sara", "initials": "S", "orcid": "0000-0002-0359-8824", "researcher": {"href": "https://publications.scilifelab.se/researcher/97412d3076174704a29d1769d8a47fec.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E"}, {"family": "Karabela", "given": "\u015eemsi Nur", "initials": "\u015eN", "orcid": "0000-0002-7358-9157", "researcher": {"href": "https://publications.scilifelab.se/researcher/2667361dc2e7417bb94bfc89bf425cc6.json"}}, {"family": "Khan", "given": "Taushif", "initials": "T", "orcid": "0000-0002-7917-8965", "researcher": {"href": "https://publications.scilifelab.se/researcher/c19c3e42c4e9403eb5e37f3257ef1c04.json"}}, {"family": "Kendir-Demirkol", "given": "Yasemin", "initials": "Y", "orcid": "0000-0003-2562-3004", "researcher": {"href": "https://publications.scilifelab.se/researcher/7986aa175de940deb86a76ae15d6c8ca.json"}}, {"family": "Arias", "given": "Andres Augusto", "initials": "AA", "orcid": "0000-0002-9478-8403", "researcher": {"href": "https://publications.scilifelab.se/researcher/7a90047f64c140d3a83269eb99091727.json"}}, {"family": "Mansouri", "given": "Davood", "initials": "D", "orcid": "0000-0002-0564-8282", "researcher": {"href": "https://publications.scilifelab.se/researcher/be50f3d74e444ab29a67d939e16c8a41.json"}}, {"family": "Marits", "given": "Per", "initials": "P", "orcid": "0000-0003-2439-5687", "researcher": {"href": "https://publications.scilifelab.se/researcher/b05d944415ab42bca1b696262176dfc0.json"}}, {"family": "Marr", "given": "Nico", "initials": "N", "orcid": "0000-0002-1927-7072", "researcher": {"href": "https://publications.scilifelab.se/researcher/5cc63695a4ca4553ae5ed703ea6bdcf8.json"}}, {"family": "Migeotte", "given": "Isabelle", "initials": "I", "orcid": "0000-0002-8972-8211", "researcher": {"href": "https://publications.scilifelab.se/researcher/55bba881dbe64c92be99c4700175e0b0.json"}}, {"family": "Moens", "given": "Leen", "initials": "L", "orcid": "0000-0002-5347-6526", "researcher": {"href": "https://publications.scilifelab.se/researcher/577b0c2d09e349d89ef8ae73efd8c5f7.json"}}, {"family": "Ozcelik", "given": "Tayfun", "initials": "T", "orcid": "0000-0001-5937-1082", "researcher": {"href": "https://publications.scilifelab.se/researcher/251a5fd386594151b80b5a3a71f6ab58.json"}}, {"family": "Pellier", "given": "Isabelle", "initials": "I", "orcid": "0000-0002-7988-4712", "researcher": {"href": "https://publications.scilifelab.se/researcher/1608f28553e9451392280c2f211e0a27.json"}}, {"family": "Sendel", "given": "Anton", "initials": "A", "orcid": "0000-0003-4410-3418", "researcher": {"href": "https://publications.scilifelab.se/researcher/35d9decdcaa24bcba85724e4481a2643.json"}}, {"family": "\u015eeno\u011flu,", "given": "Sevtap", "initials": "S"}, {"family": "Shahrooei", "given": "Mohammad", "initials": "M", "orcid": "0000-0002-4974-3441", "researcher": {"href": "https://publications.scilifelab.se/researcher/ca05eeaf33064a64bf147e83013b8e09.json"}}, {"family": "Smith", "given": "C I Edvard", "initials": "CIE", "orcid": "0000-0003-1907-3392", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3ea998a87b44c218f91701cf3019af1.json"}}, {"family": "Vandernoot", "given": "Isabelle", "initials": "I", "orcid": "0000-0001-8084-7858", "researcher": {"href": "https://publications.scilifelab.se/researcher/1cab337b13ec41aa8ae75803b778b5e2.json"}}, {"family": "Willekens", "given": "Karen", "initials": "K", "orcid": "0000-0003-2338-5778", "researcher": {"href": "https://publications.scilifelab.se/researcher/fd2124c9457947b7a70142e4ce431d36.json"}}, {"family": "Kart Ya\u015far", "given": "Kadriye", "initials": "K"}, {"family": "COVID Human Genetic Effort", "given": "", "initials": ""}, {"family": "Bergman", "given": "Peter", "initials": "P", "orcid": "0000-0003-3306-3713", "researcher": {"href": "https://publications.scilifelab.se/researcher/397d11713c80456bb600b1e4c88ff843.json"}}, {"family": "Abel", "given": "Laurent", "initials": "L", "orcid": "0000-0001-7016-6493", "researcher": {"href": "https://publications.scilifelab.se/researcher/24ef4ca1eb3a4b1bbee73f07cd64fe92.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"}}, {"family": "Meyts", "given": "Isabelle", "initials": "I", "orcid": "0000-0003-1214-0302", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfde01a48b334b2a896597ac69be80c8.json"}}, {"family": "Bryceson", "given": "Yenan T", "initials": "YT", "orcid": "0000-0002-7783-9934", "researcher": {"href": "https://publications.scilifelab.se/researcher/ce63349a03924444836215ffd201d2e3.json"}}], "type": "journal article", "published": "2022-07-04", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "219", "issue": "7", "issn-l": "0022-1007"}, "abstract": "Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-\u03b2. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2-specific memory CD4+ and CD8+ T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-\u03b2 and compensatory adaptive immunity.", "doi": "10.1084/jem.20220202", "pmid": "35670811", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9178406"}, {"db": "pii", "key": "213267"}], "notes": [], "created": "2022-11-30T05:59:34.612Z", "modified": "2022-11-30T05:59:35.210Z"}, {"entity": "publication", "iuid": "d05ad8156c2c4552aa167cc2f77c5f92", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d05ad8156c2c4552aa167cc2f77c5f92.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d05ad8156c2c4552aa167cc2f77c5f92"}}, "title": "Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort", "authors": [{"family": "Carapito", "given": "Raphael", "initials": "R", "orcid": "0000-0002-7036-442X", "researcher": {"href": "https://publications.scilifelab.se/researcher/76903b22cdeb455e836b9653637e5863.json"}}, {"family": "Li", "given": "Richard", "initials": "R", "orcid": "0000-0003-0741-337X", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6beb7b6fa854ea1894e2f4d73f960e6.json"}}, {"family": "Helms", "given": "Julie", "initials": "J"}, {"family": "Carapito", "given": "Christine", "initials": "C", "orcid": "0000-0002-0079-319X", "researcher": {"href": "https://publications.scilifelab.se/researcher/40c906d688c94e41946b96261474db92.json"}}, {"family": "Gujja", "given": "Sharvari", "initials": "S"}, {"family": "Rolli", "given": "V\u00e9ronique", "initials": "V", "orcid": "0000-0002-1215-9436", "researcher": {"href": "https://publications.scilifelab.se/researcher/7eaa0e60b3cb41a78f4d8dcb40e917cc.json"}}, {"family": "Guimaraes", "given": "Raony", "initials": "R"}, {"family": "Malagon-Lopez", "given": "Jose", "initials": "J"}, {"family": "Spinnhirny", "given": "Perrine", "initials": "P"}, {"family": "Lederle", "given": "Alexandre", "initials": "A"}, {"family": "Mohseninia", "given": "Razieh", "initials": "R"}, {"family": "Hirschler", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0001-5066-6263", "researcher": {"href": "https://publications.scilifelab.se/researcher/bd804c98aada4e44976c12dd2912c38d.json"}}, {"family": "Muller", "given": "Leslie", "initials": "L"}, {"family": "Bastard", "given": "Paul", "initials": "P", "orcid": "0000-0002-5926-8437", "researcher": {"href": "https://publications.scilifelab.se/researcher/3891533a59dc4185ba934b16e416e6ce.json"}}, {"family": "Gervais", "given": "Adrian", "initials": "A", "orcid": "0000-0002-1083-5787", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4d47775a4da4ee6ac0ff7da16c0155c.json"}}, {"family": "Zhang", "given": "Qian", "initials": "Q", "orcid": "0000-0002-9040-3289", "researcher": {"href": "https://publications.scilifelab.se/researcher/5bee352280384ad99b180f4f4bac42f5.json"}}, {"family": "Danion", "given": "Fran\u00e7ois", "initials": "F", "orcid": "0000-0003-3907-0658", "researcher": {"href": "https://publications.scilifelab.se/researcher/010a92d1146e4dd484553305bf3d5c74.json"}}, {"family": "Ruch", "given": "Yvon", "initials": "Y", "orcid": "0000-0002-4713-9478", "researcher": {"href": "https://publications.scilifelab.se/researcher/866834d1c2554ce2aa0d9e3823aa4c10.json"}}, {"family": "Schenck", "given": "Maleka", "initials": "M", "orcid": "0000-0002-1043-6452", "researcher": {"href": "https://publications.scilifelab.se/researcher/cdf8cad93b2b492ab7c6a86f6fb8109d.json"}}, {"family": "Collange", "given": "Olivier", "initials": "O"}, {"family": "Chamaraux-Tran", "given": "Thi\u00ean Nga", "initials": "TN"}, {"family": "Molitor", "given": "Anne", "initials": "A", "orcid": "0000-0003-1646-2325", "researcher": {"href": "https://publications.scilifelab.se/researcher/f1348a6ee6524f8886c48fd1c2b73b28.json"}}, {"family": "Pichot", "given": "Ang\u00e9lique", "initials": "A", "orcid": "0000-0003-2515-5538", "researcher": {"href": "https://publications.scilifelab.se/researcher/4aacb269ddaf4f5a8f2209b8f547a6a9.json"}}, {"family": "Bernard", "given": "Alice", "initials": "A"}, {"family": "Tahar", "given": "Ouria", "initials": "O", "orcid": "0000-0002-0075-2590", "researcher": {"href": "https://publications.scilifelab.se/researcher/a804ab13daff43f3b6888cd27b766b91.json"}}, {"family": "Bibi-Triki", "given": "Sabrina", "initials": "S"}, {"family": "Wu", "given": "Haiguo", "initials": "H"}, {"family": "Paul", "given": "Nicod\u00e8me", "initials": "N", "orcid": "0000-0003-4680-3012", "researcher": {"href": "https://publications.scilifelab.se/researcher/a9d8924cb3264f119c43c97feb3257b3.json"}}, {"family": "Mayeur", "given": "Sylvain", "initials": "S"}, {"family": "Larnicol", "given": "Annabel", "initials": "A"}, {"family": "Laumond", "given": "G\u00e9raldine", "initials": "G"}, {"family": "Frappier", "given": "Julia", "initials": "J", "orcid": "0000-0003-2618-8817", "researcher": {"href": "https://publications.scilifelab.se/researcher/e3ece157db0949298e13cc370703b60f.json"}}, {"family": "Schmidt", "given": "Sylvie", "initials": "S"}, {"family": "Hanauer", "given": "Antoine", "initials": "A"}, {"family": "Macquin", "given": "C\u00e9cile", "initials": "C", "orcid": "0000-0003-3194-7080", "researcher": {"href": "https://publications.scilifelab.se/researcher/cbcf074bed9b46e0872d01c65a91cb76.json"}}, {"family": "Stemmelen", "given": "Tristan", "initials": "T", "orcid": "0000-0002-4382-1277", "researcher": {"href": "https://publications.scilifelab.se/researcher/a821c104c65e48dead6301338168a18b.json"}}, {"family": "Simons", "given": "Michael", "initials": "M", "orcid": "0000-0003-0348-7734", "researcher": {"href": 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"researcher": {"href": "https://publications.scilifelab.se/researcher/009e2306468648c08fb1eea319f0c488.json"}}, {"family": "Hansmann", "given": "Yves", "initials": "Y", "orcid": "0000-0001-8903-0027", "researcher": {"href": "https://publications.scilifelab.se/researcher/1e05e2d28e154aa5a19eacd5690e109d.json"}}, {"family": "Lidar", "given": "Daniel", "initials": "D", "orcid": "0000-0002-1671-1515", "researcher": {"href": "https://publications.scilifelab.se/researcher/d213f3e38f4d40b49056ff57ae662764.json"}}, {"family": "Radosavljevic", "given": "Mirjana", "initials": "M", "orcid": "0000-0003-3925-0640", "researcher": {"href": "https://publications.scilifelab.se/researcher/b455278e8bf7496f8beff983485dace4.json"}}, {"family": "Gulcher", "given": "Jeffrey R", "initials": "JR"}, {"family": "Meziani", "given": "Ferhat", "initials": "F"}, {"family": "Moog", "given": "Christiane", "initials": "C", "orcid": "0000-0002-0916-156X", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe7d5553a9d24a0b83ad2f7ecc18a526.json"}}, {"family": "Chittenden", "given": "Thomas W", "initials": "TW"}, {"family": "Bahram", "given": "Seiamak", "initials": "S", "orcid": "0000-0002-6928-9952", "researcher": {"href": "https://publications.scilifelab.se/researcher/151805ef1f8142baab4c253b50680d18.json"}}], "type": "journal-article", "published": "2022-01-19", "journal": {"title": "Sci. Transl. Med.", "issn": "1946-6234", "pages": "eabj7521", "volume": "14", "issue": "628", "issn-l": "1946-6234"}, "abstract": "The drivers of critical coronavirus disease 2019 (COVID-19) remain unknown. Given major confounding factors such as age and comorbidities, true mediators of this condition have remained elusive. We used a multi-omics analysis combined with artificial intelligence in a young patient cohort where major comorbidities were excluded at the onset. The cohort included 47 \u201ccritical\u201d (in the intensive care unit under mechanical ventilation) and 25 \u201cnon-critical\u201d (in a non-critical care ward) patients with COVID-19 and 22 healthy individuals. The analyses included whole-genome sequencing, whole-blood RNA sequencing, plasma and blood mononuclear cell proteomics, cytokine profiling, and high-throughput immunophenotyping. An ensemble of machine learning, deep learning, quantum annealing, and structural causal modeling were used. Patients with critical COVID-19 were characterized by exacerbated inflammation, perturbed lymphoid and myeloid compartments, increased coagulation, and viral cell biology. Among differentially expressed genes, we observed up-regulation of the metalloprotease ADAM9. This gene signature was validated in a second independent cohort of 81 critical and 73 recovered patients with COVID-19 and was further confirmed at the transcriptional and protein level and by proteolytic activity. Ex vivo ADAM9 inhibition decreased severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) uptake and replication in human lung epithelial cells. In conclusion, within a young, otherwise healthy, cohort of individuals with COVID-19, we provide the landscape of biological perturbations in vivo where a unique gene signature differentiated critical from non-critical patients. We further identified ADAM9 as a driver of disease severity and a candidate therapeutic target.", "doi": "10.1126/scitranslmed.abj7521", "pmid": "34698500", "labels": {"Autoimmunity and Serology Profiling": "Service"}, "xrefs": [], "notes": [], "created": "2021-11-09T06:20:06.651Z", "modified": "2023-06-19T11:35:21.919Z"}, {"entity": "publication", "iuid": "bce3eb78ee8e4437bf9e297ccb44a8f7", "links": {"self": {"href": "https://publications.scilifelab.se/publication/bce3eb78ee8e4437bf9e297ccb44a8f7.json"}, "display": {"href": "https://publications.scilifelab.se/publication/bce3eb78ee8e4437bf9e297ccb44a8f7"}}, "title": "X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.", "authors": [{"family": "Asano", "given": "Takaki", "initials": "T", "orcid": "0000-0003-1424-2433", "researcher": {"href": "https://publications.scilifelab.se/researcher/ac5194017554453e88b16a4db83ff29a.json"}}, {"family": "Boisson", "given": "Bertrand", "initials": "B", 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"Shen-Ying", "initials": "SY"}, {"family": "B\u00e9ziat", "given": "Vivien", "initials": "V", "orcid": "0000-0002-4020-824X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb59e3ecbbba41c98215a9424f82d70f.json"}}, {"family": "Lifton", "given": "Richard P", "initials": "RP"}, {"family": "Bastard", "given": "Paul", "initials": "P", "orcid": "0000-0002-5926-8437", "researcher": {"href": "https://publications.scilifelab.se/researcher/3891533a59dc4185ba934b16e416e6ce.json"}}, {"family": "Notarangelo", "given": "Luigi D", "initials": "LD", "orcid": "0000-0002-8335-0262", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8d346e44c2d443ba3da3fcf2725b96c.json"}}, {"family": "Abel", "given": "Laurent", "initials": "L", "orcid": "0000-0001-7016-6493", "researcher": {"href": "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"}]}