{"entity": "journal", "iuid": "f3c8a71ec8a84117a32ba15db96651c5", "timestamp": "2026-07-18T02:35:24.448Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/J.%20Exp.%20Med..json"}, "display": {"href": "https://publications.scilifelab.se/journal/J.%20Exp.%20Med."}}, "title": "J. Exp. Med.", "issn": "1540-9538", "issn-l": "0022-1007", "publications_count": 14, "publications": [{"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": "https://publications.scilifelab.se/researcher/9648145c59af4d31b806ed93f5e2afd7.json"}}, {"family": "Le Voyer", "given": "Tom", "initials": "T", "orcid": "0000-0002-7253-3135", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ae9aa653f874c2cb1c68a2deb9357b8.json"}}, {"family": "Liu", "given": "Xian", "initials": "X", "orcid": "0000-0001-6546-3725", "researcher": {"href": "https://publications.scilifelab.se/researcher/67f9d4ef9f7149e1ae557cbc6375f935.json"}}, {"family": "Gervais", "given": "Adrian", "initials": "A", "orcid": "0000-0002-1083-5787", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4d47775a4da4ee6ac0ff7da16c0155c.json"}}, {"family": "Polivka", "given": "Laura", "initials": "L", "orcid": "0000-0002-5142-6234", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d02ad2da27342c9912f973a0b24edb1.json"}}, {"family": "Cederholm", "given": "Axel", "initials": "A", "orcid": "0009-0006-5973-9637", "researcher": {"href": "https://publications.scilifelab.se/researcher/b2dffb2fd8e446d6a72c765602b97291.json"}}, {"family": "Berteloot", "given": "Laureline", "initials": "L", "orcid": "0000-0001-9681-3142", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa0ce699420749dc97617accb080b2e8.json"}}, {"family": "Parent", "given": "Audrey V", "initials": "AV", "orcid": "0000-0003-4506-6268", "researcher": {"href": "https://publications.scilifelab.se/researcher/553847cbdc524ebf9d064078ce5ea089.json"}}, {"family": "Pescatore", "given": "Alessandra", "initials": "A", "orcid": "0000-0001-8453-8198", "researcher": {"href": "https://publications.scilifelab.se/researcher/4bed07fa2f3b4bbd91f43b7ceab99180.json"}}, {"family": "Spinosa", "given": "Ezia", "initials": "E", "orcid": "0009-0000-4358-557X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5f277842e8824bb99435d2fe0159404b.json"}}, {"family": "Minic", "given": "Snezana", "initials": "S", "orcid": "0000-0003-2185-9749", "researcher": {"href": "https://publications.scilifelab.se/researcher/bd44dd110e0743cba754b54f396eb0f4.json"}}, {"family": "Kiszewski", "given": "Ana Elisa", "initials": "AE", "orcid": "0000-0002-6287-6302", "researcher": {"href": "https://publications.scilifelab.se/researcher/bfab446653214f45b802e658ace9ddf1.json"}}, {"family": "Tsumura", "given": "Miyuki", "initials": "M", "orcid": "0000-0002-8272-9588", "researcher": {"href": "https://publications.scilifelab.se/researcher/0000b80ead774d0bae251fe78c315a7a.json"}}, {"family": "Thibault", "given": "Chlo\u00e9", "initials": "C", "orcid": "0000-0002-9420-4180", "researcher": {"href": "https://publications.scilifelab.se/researcher/b4405cafc0ba4afab9732e6627be6fd3.json"}}, {"family": "Esnaola Azcoiti", "given": "Maria", "initials": "M", "orcid": "0000-0002-1499-1015", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6b3a4104d464952a1f74486191d64d1.json"}}, {"family": "Martinovic", "given": "Jelena", "initials": "J", "orcid": "0000-0003-4595-7271", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7c283c428084ba185e28afccb22041e.json"}}, {"family": "Philippot", "given": "Quentin", "initials": "Q", "orcid": "0000-0003-3429-9605", "researcher": {"href": "https://publications.scilifelab.se/researcher/49fea9565657416ea5b12e31ff62177c.json"}}, {"family": "Khan", "given": "Taushif", "initials": "T", "orcid": "0000-0002-7917-8965", "researcher": {"href": "https://publications.scilifelab.se/researcher/c19c3e42c4e9403eb5e37f3257ef1c04.json"}}, {"family": "Marchal", "given": "Astrid", "initials": "A", "orcid": "0000-0003-0648-8126", "researcher": {"href": "https://publications.scilifelab.se/researcher/28c721f7c49542539df2986b4ff01c64.json"}}, {"family": "Charmeteau-De Muylder", "given": "B\u00e9n\u00e9dicte", "initials": "B", "orcid": "0009-0009-2692-781X", "researcher": {"href": "https://publications.scilifelab.se/researcher/083a77fab7094d4f9433fd498a5f1725.json"}}, {"family": "Bizien", "given": "Lucy", "initials": "L", "orcid": "0000-0001-9163-9122", "researcher": {"href": "https://publications.scilifelab.se/researcher/61953873d0704a21beb1769e160a8f9c.json"}}, {"family": "Deswarte", "given": "Caroline", "initials": "C", "orcid": "0000-0002-8775-3368", "researcher": {"href": "https://publications.scilifelab.se/researcher/cccc529fee1d460ca08d53b7299c0896.json"}}, {"family": "Hadjem", "given": "Lillia", "initials": "L", "orcid": "0009-0003-6990-5887", "researcher": {"href": "https://publications.scilifelab.se/researcher/b500ed1c08c14f1e94fc57d1cb3387fd.json"}}, {"family": "Fauvarque", "given": "Marie-Odile", "initials": "MO", "orcid": "0000-0001-5020-3701", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c4fdf162ffb430cabcb92b047662591.json"}}, {"family": "Dorgham", "given": "Karim", "initials": "K", "orcid": "0000-0001-9539-3203", "researcher": {"href": "https://publications.scilifelab.se/researcher/4468a96c2f1142bcb3828b9864bd6115.json"}}, {"family": "Eriksson", "given": "Daniel", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}, {"family": "Falcone", "given": "Emilia Liana", "initials": "EL", "orcid": "0000-0002-5486-1549", "researcher": {"href": "https://publications.scilifelab.se/researcher/37a07961f87c404596fd996f4bb3f820.json"}}, {"family": "Puel", "given": "Mathilde", "initials": "M", "orcid": "0009-0000-4972-6636", "researcher": {"href": "https://publications.scilifelab.se/researcher/617ce634a1614e19ba23f8e2d8ebfe3f.json"}}, {"family": "\u00dcnal", "given": "Sinem", "initials": "S", "orcid": "0009-0002-5460-5948", "researcher": {"href": "https://publications.scilifelab.se/researcher/38758f535ab9497e870a8cea680dcb2c.json"}}, {"family": "Geraldo", "given": "Amyrath", "initials": "A", "orcid": "0009-0005-9238-4447", "researcher": {"href": "https://publications.scilifelab.se/researcher/176f06ce20644d9381b525d97ba93a96.json"}}, {"family": "Le Floc'h", "given": "Corentin", "initials": "C", "orcid": "0009-0007-0590-0437", "researcher": {"href": "https://publications.scilifelab.se/researcher/8535883edb7444838ff6db3374c20dd3.json"}}, {"family": "Li", "given": "Hailun", "initials": "H", "orcid": "0000-0002-0764-2837", "researcher": {"href": "https://publications.scilifelab.se/researcher/ca9d5b72ad244233b558282535521b75.json"}}, {"family": "Rheault", "given": "Sylvie", "initials": "S", "orcid": "0000-0003-0227-1624", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d768af59eb64db38e8c84bd6174ece8.json"}}, {"family": "Muti", "given": "Christine", "initials": "C", "orcid": "0009-0001-7149-025X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8e626b626e51419294526c09d94fba9a.json"}}, {"family": "Bobrie-Moyrand", "given": "Claire", "initials": "C", "orcid": "0009-0002-2689-6522", "researcher": {"href": "https://publications.scilifelab.se/researcher/874a2f5cc0284946a684fc322d28b72c.json"}}, {"family": "Welfringer-Morin", "given": "Anne", "initials": "A", "orcid": "0000-0001-7479-3689", "researcher": {"href": "https://publications.scilifelab.se/researcher/28ca220bbaf04393941ee6e057028187.json"}}, {"family": "Fuleihan", "given": "Ramsay L", "initials": "RL", "orcid": "0000-0002-8477-9239", "researcher": {"href": "https://publications.scilifelab.se/researcher/69b7a01af83c4d7081ce2be5db84d93e.json"}}, {"family": "L\u00e9vy", "given": "Romain", "initials": "R", "orcid": "0000-0002-6393-0198", "researcher": {"href": "https://publications.scilifelab.se/researcher/2b6ff57ca5144bbbae63f6ae4ccae910.json"}}, {"family": "Roelens", "given": "Marie", "initials": "M", "orcid": "0000-0002-6212-8742", "researcher": {"href": "https://publications.scilifelab.se/researcher/c87e7947648444af96df39e89ac0ec0c.json"}}, {"family": "Gao", "given": "Liwei", "initials": "L", "orcid": "0009-0006-7282-1416", "researcher": {"href": "https://publications.scilifelab.se/researcher/cfdbb6cfacda43afa74a34b22ea2a3c4.json"}}, {"family": "Materna", "given": "Marie", "initials": "M", "orcid": "0000-0003-2145-5285", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4fc48e4797b49678e35196d9d6f1cff.json"}}, {"family": "Pellegrini", "given": "Silvia", "initials": "S", "orcid": "0000-0001-5187-2421", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c1cde55a2f841c28ba7b2c74d6d4789.json"}}, {"family": "Piemonti", "given": "Lorenzo", "initials": "L", "orcid": "0000-0002-2172-2198", "researcher": {"href": "https://publications.scilifelab.se/researcher/5e94e84fe1d445bcac01adae0e9800c4.json"}}, {"family": "Catherinot", "given": "Emilie", "initials": "E", "orcid": "0000-0002-1487-3270", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee813c63412e4de283084dbdb5e626bf.json"}}, {"family": "Goffard", "given": "Jean-Christophe", "initials": "JC", "orcid": "0000-0002-2730-7673", "researcher": {"href": "https://publications.scilifelab.se/researcher/6eb5d5dff30e46e98e66e210c2ece6ad.json"}}, {"family": "Fekkar", "given": "Arnaud", "initials": "A", "orcid": "0000-0001-9954-075X", "researcher": {"href": "https://publications.scilifelab.se/researcher/196d7882d90342d29d24db3937143d39.json"}}, {"family": "Sacko-Sow", "given": "Aissata", "initials": "A", "orcid": "0009-0006-5963-1597", "researcher": {"href": "https://publications.scilifelab.se/researcher/e3c160b912194e4b9504cb1acceaf21e.json"}}, {"family": "Soud\u00e9e", "given": "Camille", "initials": "C", "orcid": "0009-0002-1445-7223", "researcher": {"href": "https://publications.scilifelab.se/researcher/7ba794c4beea4c8fb98804ab2c6387b1.json"}}, {"family": "Boucherit", "given": "Soraya", "initials": "S", "orcid": "0000-0002-8819-7594", "researcher": {"href": "https://publications.scilifelab.se/researcher/f6f5b52c1c644893b8eb622fc383ac37.json"}}, {"family": "Neehus", "given": "Anna-Lena", "initials": "AL", "orcid": "0000-0002-8573-6820", "researcher": {"href": "https://publications.scilifelab.se/researcher/f0d78343f97c469cb88a2d38fd4945ec.json"}}, {"family": "Has", "given": "Cristina", "initials": "C", "orcid": "0000-0001-6066-507X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f1315364099c4502bfe6c27f6d22bcf0.json"}}, {"family": "H\u00fcbner", "given": "Stefanie", "initials": "S", "orcid": "0000-0002-1563-4749", "researcher": {"href": "https://publications.scilifelab.se/researcher/c6ee568c31fa46189e8fb14673c51def.json"}}, {"family": "Blanchard-Rohner", "given": "G\u00e9raldine", "initials": "G", "orcid": "0000-0002-9974-2172", "researcher": {"href": "https://publications.scilifelab.se/researcher/71d3d2de66d84c48a26048a47af559c3.json"}}, {"family": "Amador-Borrero", "given": "Blanca", "initials": "B", "orcid": "0000-0001-6170-8721", "researcher": {"href": "https://publications.scilifelab.se/researcher/6c4810adfc654e748b99ccc0fbbc256c.json"}}, {"family": "Utsumi", "given": "Takanori", "initials": "T", "orcid": "0009-0003-3600-4484", "researcher": {"href": "https://publications.scilifelab.se/researcher/ba4555e6d0d0469cbc75c4e402cedc48.json"}}, {"family": "Taniguchi", "given": "Maki", "initials": "M", "orcid": "0009-0005-4035-1360", "researcher": {"href": "https://publications.scilifelab.se/researcher/b4f5104732454dee96cd97046cee0bf1.json"}}, {"family": "Tani", "given": "Hiroo", "initials": "H", "orcid": "0000-0002-4632-6482", "researcher": {"href": "https://publications.scilifelab.se/researcher/a6f485b44aca44a3b8477b7104218aed.json"}}, {"family": "Izawa", "given": "Kazushi", "initials": "K", "orcid": "0000-0003-1080-0936", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ded210fc06746dfa5ab83e0917b9be1.json"}}, {"family": "Yasumi", "given": "Takahiro", "initials": "T", "orcid": "0000-0003-3257-5071", "researcher": {"href": "https://publications.scilifelab.se/researcher/2e8ca42e16334f358a4c9f3c6e3e55ca.json"}}, {"family": "Kanai", "given": "Sotaro", "initials": "S", "orcid": "0000-0002-7320-2346", "researcher": {"href": "https://publications.scilifelab.se/researcher/64ba574ae9114e9f9f8ea2b4ed1b558d.json"}}, {"family": "Migaud", "given": "M\u00e9lanie", "initials": "M", "orcid": "0000-0003-3062-1214", "researcher": {"href": "https://publications.scilifelab.se/researcher/228bd855b47a47b3a04cfd7a72d6f24c.json"}}, {"family": "Aubart", "given": "M\u00e9lodie", "initials": "M", "orcid": "0000-0002-4383-7930", "researcher": {"href": "https://publications.scilifelab.se/researcher/b34224baffb944cf9fa4f404a479eecf.json"}}, {"family": "Lambert", "given": "Nathalie", "initials": "N", "orcid": "0009-0001-1762-8641", "researcher": {"href": "https://publications.scilifelab.se/researcher/d79cdd0418e54e0c8d443f60778f180a.json"}}, {"family": "Gorochov", "given": "Guy", "initials": "G", "orcid": "0000-0003-2097-9677", "researcher": {"href": "https://publications.scilifelab.se/researcher/a14735a6066940febf3513c95a3ec52d.json"}}, {"family": "Picard", "given": "Capucine", "initials": "C", "orcid": "0000-0001-8788-5056", "researcher": {"href": "https://publications.scilifelab.se/researcher/87259ef0f79640c2a359d3dcd3a2ba9b.json"}}, {"family": "Soudais", "given": "Claire", "initials": "C", "orcid": "0000-0002-4387-6649", "researcher": {"href": "https://publications.scilifelab.se/researcher/805b70a31d36460f9103e6430929bdae.json"}}, {"family": "L'Honneur", "given": "Anne-Sophie", "initials": "AS", "orcid": "0000-0002-9228-0649", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7f13b670b854a519c142ca60951689b.json"}}, {"family": "Rozenberg", "given": "Flore", "initials": "F", "orcid": "0000-0001-7212-2021", "researcher": {"href": "https://publications.scilifelab.se/researcher/68d33eaca9ce4dca8aff464658ca7ac8.json"}}, {"family": "Milner", "given": "Joshua D", "initials": "JD", "orcid": "0000-0002-3913-3869", "researcher": {"href": "https://publications.scilifelab.se/researcher/545bca99a86840cd99bba67616ab7e38.json"}}, {"family": "Zhang", "given": "Shen-Ying", "initials": "SY", "orcid": "0000-0002-9449-3672", "researcher": {"href": "https://publications.scilifelab.se/researcher/590822f879bb49b7bac24d2c89bf5a12.json"}}, {"family": "Vabres", "given": "Pierre", "initials": "P", "orcid": "0000-0001-8693-3183", "researcher": {"href": "https://publications.scilifelab.se/researcher/5a44e5ed6a22477d9baa9e3fa90ac80d.json"}}, {"family": "Trpinac", "given": "Dusan", "initials": "D", "orcid": "0000-0003-2586-9223", "researcher": {"href": "https://publications.scilifelab.se/researcher/464a5f14a1614f9d9be6d1435fb32c40.json"}}, {"family": "Marr", "given": "Nico", "initials": "N", "orcid": "0000-0002-1927-7072", "researcher": {"href": "https://publications.scilifelab.se/researcher/5cc63695a4ca4553ae5ed703ea6bdcf8.json"}}, {"family": "Boddaert", "given": "Nathalie", "initials": "N", "orcid": "0000-0003-0991-7774", "researcher": {"href": "https://publications.scilifelab.se/researcher/8792cf210d9141689a84252945b1065e.json"}}, {"family": "Desguerre", "given": "Isabelle", "initials": "I", "orcid": "0000-0002-4074-5862", "researcher": {"href": "https://publications.scilifelab.se/researcher/6485398ddadc482582494a7258889361.json"}}, {"family": "Pasparakis", "given": "Manolis", "initials": "M", "orcid": "0000-0002-9870-0966", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d615c1f6fa44e948a8b6b279922d4f3.json"}}, {"family": "Miller", "given": "Corey N", "initials": "CN", "orcid": "0000-0002-1291-0074", "researcher": {"href": "https://publications.scilifelab.se/researcher/456a306e949149db8f39e7355e663d59.json"}}, {"family": "Poziomczyk", "given": "Cl\u00e1udia S", "initials": "CS", "orcid": "0009-0006-6943-0131", "researcher": {"href": "https://publications.scilifelab.se/researcher/d593a96ddf184f5b890b36c3ed53a193.json"}}, {"family": "Abel", "given": "Laurent", "initials": "L", "orcid": "0000-0001-7016-6493", "researcher": {"href": "https://publications.scilifelab.se/researcher/24ef4ca1eb3a4b1bbee73f07cd64fe92.json"}}, {"family": "Okada", "given": "Satoshi", "initials": "S", "orcid": "0000-0002-4622-5657", "researcher": {"href": "https://publications.scilifelab.se/researcher/e2b6ede2a4284e61bce4c2634dbcc21c.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E", "orcid": "0000-0002-7358-9157", "researcher": {"href": "https://publications.scilifelab.se/researcher/2667361dc2e7417bb94bfc89bf425cc6.json"}}, {"family": "Cheynier", "given": "R\u00e9mi", "initials": "R", "orcid": "0000-0003-1146-660X", "researcher": {"href": "https://publications.scilifelab.se/researcher/13961821f1b7495187d3781516e689ff.json"}}, {"family": "Zhang", "given": "Qian", "initials": "Q", "orcid": "0000-0002-9040-3289", "researcher": {"href": "https://publications.scilifelab.se/researcher/5bee352280384ad99b180f4f4bac42f5.json"}}, {"family": "Cobat", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0001-7209-6257", "researcher": {"href": "https://publications.scilifelab.se/researcher/eaba2f9452294eec89161b589d96ff29.json"}}, {"family": "B\u00e9ziat", "given": "Vivien", "initials": "V", "orcid": "0000-0002-4020-824X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb59e3ecbbba41c98215a9424f82d70f.json"}}, {"family": "Boisson", "given": "Bertrand", "initials": "B", "orcid": "0000-0001-5240-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c47acbcc3346bcb65102b534b25cc8.json"}}, {"family": "Steffann", "given": "Julie", "initials": "J", "orcid": "0000-0001-5259-4144", "researcher": {"href": "https://publications.scilifelab.se/researcher/13d4691db00241b090a713afce1055e9.json"}}, {"family": "Fusco", "given": "Francesca", "initials": "F", "orcid": "0000-0002-7578-6058", "researcher": {"href": "https://publications.scilifelab.se/researcher/df60acb9ac5840a5aa45bed035d5118d.json"}}, {"family": "Ursini", "given": "Matilde Valeria", "initials": "MV", "orcid": "0000-0001-5348-3315", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4d772f924674357af35c06013234aac.json"}}, {"family": "Hadj-Rabia", "given": "Smail", "initials": "S", "orcid": "0000-0001-6801-7106", "researcher": {"href": "https://publications.scilifelab.se/researcher/c423c3277c8a4b88a4a31a7c52f81fb0.json"}}, {"family": "Bodemer", "given": "Christine", "initials": "C", "orcid": "0000-0001-8772-0905", "researcher": {"href": "https://publications.scilifelab.se/researcher/c26f136c4c204df793828e404e63a9e0.json"}}, {"family": "Bustamante", "given": "Jacinta", "initials": "J", "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", "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", "researcher": {"href": "https://publications.scilifelab.se/researcher/e8ff2d2fcbe749d8a70853b4c19870c5.json"}}, {"family": "Haerynck", "given": "Filomeen", "initials": "F", "orcid": "0000-0001-9161-7361", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4c5908a94bd4f99919c30ea03c8cae0.json"}}, {"family": "Duvlis", "given": "Sotirija", "initials": "S", "orcid": "0000-0001-8587-7386", "researcher": {"href": "https://publications.scilifelab.se/researcher/0d16629aaf1f477385a83422a26233f9.json"}}, {"family": "Ozcelik", "given": "Tayfun", "initials": "T", "orcid": "0000-0001-5937-1082", "researcher": {"href": "https://publications.scilifelab.se/researcher/251a5fd386594151b80b5a3a71f6ab58.json"}}, {"family": "Keles", "given": "Sevgi", "initials": "S", "orcid": "0000-0001-7344-8947", "researcher": {"href": "https://publications.scilifelab.se/researcher/0b137fd96c0842288b660de7b4e0dfa7.json"}}, {"family": "Tandjaoui-Lambiotte", "given": "Yacine", "initials": "Y", "orcid": "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", "initials": "G", "orcid": "0000-0001-9017-3113", "researcher": {"href": "https://publications.scilifelab.se/researcher/02951092d80f4eaeb622ccd8dd8386f4.json"}}, {"family": "Abi Haidar", "given": "Anthony", "initials": "A", "orcid": "0009-0001-8555-7988", "researcher": {"href": "https://publications.scilifelab.se/researcher/f2134723b8b94cf39bd62c4fa7ce3feb.json"}}, {"family": "Soudee", "given": "Camille", "initials": "C", "orcid": "0009-0002-1445-7223", "researcher": {"href": "https://publications.scilifelab.se/researcher/7ba794c4beea4c8fb98804ab2c6387b1.json"}}, {"family": "Arseguel", "given": "Vincent", "initials": "V"}, {"family": "Abolhassani", "given": "Hassan", "initials": "H", "orcid": "0000-0002-4838-0407", "researcher": {"href": "https://publications.scilifelab.se/researcher/20370042ca1045c3bcaac67821a93df2.json"}}, {"family": "Sahanic", "given": "Sabina", "initials": "S", "orcid": "0000-0002-0583-9310", "researcher": {"href": "https://publications.scilifelab.se/researcher/d71855cf70654bb8ada7d70ab7189850.json"}}, {"family": "Tancevski", "given": "Ivan", "initials": "I", "orcid": "0000-0001-5116-8960", "researcher": {"href": "https://publications.scilifelab.se/researcher/39640f1f530b48b692563e668ef64956.json"}}, {"family": "Nukui", "given": "Yoko", "initials": "Y", "orcid": "0000-0002-6123-5212", "researcher": {"href": "https://publications.scilifelab.se/researcher/f8fc96df79bc4282a616c61c441079c5.json"}}, {"family": "Hayakawa", "given": "Seiichi", "initials": "S", "orcid": "0000-0002-2833-2010", "researcher": {"href": "https://publications.scilifelab.se/researcher/b76b47d4341941419fffb77731b9f4d8.json"}}, {"family": "Chrousos", "given": "George P", "initials": "GP", "orcid": "0000-0002-3098-5264", "researcher": {"href": "https://publications.scilifelab.se/researcher/50b4e2cdebf1404188934e550bb1b67d.json"}}, {"family": "Michos", "given": "Athanasios", "initials": "A", "orcid": "0000-0003-1745-1118", "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": {"href": "https://publications.scilifelab.se/researcher/0399ac51fec440c5a8eba612fdcb5a99.json"}}, {"family": "Vinh", "given": "Donald C", "initials": "DC", "orcid": "0000-0003-1347-7767", "researcher": {"href": "https://publications.scilifelab.se/researcher/05a49c5b1c6644678b1acf29dfc095a0.json"}}, {"family": "Boisson", "given": "Bertrand", "initials": "B", "orcid": "0000-0001-5240-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c47acbcc3346bcb65102b534b25cc8.json"}}, {"family": "B\u00e9ziat", "given": "Vivien", "initials": "V", "orcid": "0000-0002-4020-824X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb59e3ecbbba41c98215a9424f82d70f.json"}}, {"family": "Zhang", "given": "Shen-Ying", "initials": "SY", "orcid": "0000-0002-9449-3672", "researcher": {"href": "https://publications.scilifelab.se/researcher/590822f879bb49b7bac24d2c89bf5a12.json"}}, {"family": "Borghesi", "given": "Alessandro", "initials": "A", "orcid": "0000-0002-8773-9144", "researcher": {"href": "https://publications.scilifelab.se/researcher/429cef832af74f8fb2d28bb86af69912.json"}}, {"family": "Pession", "given": "Andrea", "initials": "A", "orcid": "0000-0002-0379-9562", "researcher": {"href": "https://publications.scilifelab.se/researcher/3cefcd7485884009b1ab92a3f6b6c2f3.json"}}, {"family": "Andreakos", "given": "Evangelos", "initials": "E", "orcid": "0000-0001-5536-1661", "researcher": {"href": "https://publications.scilifelab.se/researcher/9a32249b9668479eb790958d25359a8f.json"}}, {"family": "Marr", "given": "Nico", "initials": "N", "orcid": "0000-0002-1927-7072", "researcher": {"href": "https://publications.scilifelab.se/researcher/5cc63695a4ca4553ae5ed703ea6bdcf8.json"}}, {"family": "Mentis", "given": "Alexios-Fotios A", "initials": "AA", "orcid": "0000-0002-1480-390X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a3a67771063e48ed8e8ce79a8760b758.json"}}, {"family": "Mogensen", "given": "Trine H", "initials": "TH", "orcid": "0000-0002-1853-9704", "researcher": {"href": "https://publications.scilifelab.se/researcher/a27f3f726f7546b7800c722348411cb9.json"}}, {"family": "Rodr\u00edguez-Gallego", "given": "Carlos", "initials": "C", "orcid": "0000-0002-4344-8644", "researcher": {"href": "https://publications.scilifelab.se/researcher/aec678307aa34522b7426edece581dc6.json"}}, {"family": "Soler-Palacin", "given": "Pere", "initials": "P", "orcid": "0000-0002-0346-5570", "researcher": {"href": "https://publications.scilifelab.se/researcher/20960027c9844261814be2d0e33f1130.json"}}, {"family": "Colobran", "given": "Roger", "initials": "R", "orcid": "0000-0002-5964-536X", "researcher": {"href": "https://publications.scilifelab.se/researcher/84ffe04eb4a0475b83daae502866f586.json"}}, {"family": "Tillmann", "given": "Vallo", "initials": "V", "orcid": "0000-0002-5279-4493", "researcher": {"href": "https://publications.scilifelab.se/researcher/ef49d1a9e8b14f3ab73df7645779727f.json"}}, {"family": "Neven", "given": "B\u00e9n\u00e9dicte", "initials": "B", "orcid": "0000-0001-8941-0935", "researcher": {"href": "https://publications.scilifelab.se/researcher/eefbcb79b7024cb3a887adc61c85c6bb.json"}}, {"family": "Trouillet-Assant", "given": "Sophie", "initials": "S", "orcid": "0000-0001-6439-4705", "researcher": {"href": "https://publications.scilifelab.se/researcher/86e4a0a41590427c99596196b5f7f108.json"}}, {"family": "Brodin", "given": "Petter", "initials": "P", "orcid": "0000-0002-8103-0046", "researcher": {"href": "https://publications.scilifelab.se/researcher/40097353cdb24e52bf2330eb687042bf.json"}}, {"family": "Abel", "given": "Laurent", "initials": "L", "orcid": "0000-0001-7016-6493", "researcher": {"href": "https://publications.scilifelab.se/researcher/24ef4ca1eb3a4b1bbee73f07cd64fe92.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E", "orcid": "0000-0002-7358-9157", "researcher": {"href": "https://publications.scilifelab.se/researcher/2667361dc2e7417bb94bfc89bf425cc6.json"}}, {"family": "Zhang", "given": "Qian", "initials": "Q", "orcid": "0000-0002-9040-3289", "researcher": {"href": "https://publications.scilifelab.se/researcher/5bee352280384ad99b180f4f4bac42f5.json"}}, {"family": "Martin\u00f3n-Torres", "given": "Federico", "initials": "F", "orcid": "0000-0002-9023-581X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7d6dabe5072b45d1a0835e6f92580df2.json"}}, {"family": "Salas", "given": "Antonio", "initials": "A", "orcid": "0000-0002-2336-702X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cff5626fdde3485d9205884417e810dd.json"}}, {"family": "G\u00f3mez-Carballa", "given": "Alberto", "initials": "A", "orcid": "0000-0003-0927-1272", "researcher": {"href": "https://publications.scilifelab.se/researcher/29ecdcf20e984ed7ac8b4468dac993ce.json"}}, {"family": "Gonzalez-Granado", "given": "Luis I", "initials": "LI", "orcid": "0000-0001-6917-8980", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd3d6c5bf02c4b3eb6dc260c283ee1ad.json"}}, {"family": "Kisand", "given": "Kai", "initials": "K", "orcid": "0000-0002-5426-4648", "researcher": {"href": "https://publications.scilifelab.se/researcher/f3f676eacf9544b5b06ec3aafbf29899.json"}}, {"family": "Okada", "given": "Satoshi", "initials": "S", "orcid": "0000-0002-4622-5657", "researcher": {"href": "https://publications.scilifelab.se/researcher/e2b6ede2a4284e61bce4c2634dbcc21c.json"}}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3bcef4c205904e5db9e36f3aadaa13bb.json"}}, {"family": "Cobat", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0001-7209-6257", "researcher": {"href": "https://publications.scilifelab.se/researcher/eaba2f9452294eec89161b589d96ff29.json"}}, {"family": "Casanova", "given": "Jean-Laurent", "initials": "JL", "orcid": "0000-0002-7782-4169", "researcher": {"href": "https://publications.scilifelab.se/researcher/009e2306468648c08fb1eea319f0c488.json"}}], "type": "journal article", "published": "2024-02-05", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "221", "issue": "2", "issn-l": "0022-1007"}, "abstract": "We found that 19 (10.4%) of 183 unvaccinated children hospitalized for COVID-19 pneumonia had autoantibodies (auto-Abs) neutralizing type I IFNs (IFN-\u03b12 in 10 patients: IFN-\u03b12 only in three, IFN-\u03b12 plus IFN-\u03c9 in five, and IFN-\u03b12, IFN-\u03c9 plus IFN-\u03b2 in two; IFN-\u03c9 only in nine patients). Seven children (3.8%) had Abs neutralizing at least 10 ng/ml of one IFN, whereas the other 12 (6.6%) had Abs neutralizing only 100 pg/ml. The auto-Abs neutralized both unglycosylated and glycosylated IFNs. We also detected auto-Abs neutralizing 100 pg/ml IFN-\u03b12 in 4 of 2,267 uninfected children (0.2%) and auto-Abs neutralizing IFN-\u03c9 in 45 children (2%). The odds ratios (ORs) for life-threatening COVID-19 pneumonia were, therefore, higher for auto-Abs neutralizing IFN-\u03b12 only (OR [95% CI] = 67.6 [5.7-9,196.6]) than for auto-Abs neutralizing IFN-\u03c9 only (OR [95% CI] = 2.6 [1.2-5.3]). ORs were also higher for auto-Abs neutralizing high concentrations (OR [95% CI] = 12.9 [4.6-35.9]) than for those neutralizing low concentrations (OR [95% CI] = 5.5 [3.1-9.6]) of IFN-\u03c9 and/or IFN-\u03b12.", "doi": "10.1084/jem.20231353", "pmid": "38175961", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10771097"}, {"db": "pii", "key": "276477"}], "notes": [], "created": "2024-11-28T18:23:52.122Z", "modified": "2024-11-28T18:23:56.100Z"}, {"entity": "publication", "iuid": "105f960199ea414c8b533eded245b31c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/105f960199ea414c8b533eded245b31c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/105f960199ea414c8b533eded245b31c"}}, "title": "Antigen-presenting autoreactive B cells activate regulatory T cells and suppress autoimmune arthritis in mice.", "authors": [{"family": "Aoun", "given": "Mike", "initials": "M", "orcid": "0000-0002-7814-3787", "researcher": {"href": "https://publications.scilifelab.se/researcher/3e342417528f4a92a8e84558359b6bfa.json"}}, {"family": "Coelho", "given": "Ana", "initials": "A", "orcid": "0000-0001-7783-9750", "researcher": {"href": "https://publications.scilifelab.se/researcher/163d8babd72b406d94647b4cfd9d7e5b.json"}}, {"family": "Kr\u00e4mer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-2288-2361", "researcher": {"href": "https://publications.scilifelab.se/researcher/50b1230e5acf4ad89344e8d1ae404ef2.json"}}, {"family": "Saxena", "given": "Amit", "initials": "A", "orcid": "0000-0002-1185-8649", "researcher": {"href": "https://publications.scilifelab.se/researcher/d230e0159adc4d7dbd1c3e7ded94dcec.json"}}, {"family": "Sabatier", "given": "Pierre", "initials": "P", "orcid": "0000-0002-2734-1791", "researcher": {"href": "https://publications.scilifelab.se/researcher/1a75556311084e2b827ab1f646d7a16c.json"}}, {"family": "Beusch", "given": "Christian Michel", "initials": "CM", "orcid": "0000-0001-9100-8283", "researcher": {"href": "https://publications.scilifelab.se/researcher/278e50b11a3c4ef69b6e2708f99b5f3e.json"}}, {"family": "L\u00f6nnblom", "given": "Erik", "initials": "E", "orcid": "0000-0002-1311-2541", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f5683b51d554ff482bd76c0ded3aaa2.json"}}, {"family": "Geng", "given": "Manman", "initials": "M", "orcid": "0009-0003-7502-4699", "researcher": {"href": "https://publications.scilifelab.se/researcher/0370014234f54ad08bba271bc19f2703.json"}}, {"family": "Do", "given": "Nhu-Nguyen", "initials": "NN", "orcid": "0000-0001-6483-8062", "researcher": {"href": "https://publications.scilifelab.se/researcher/0de1bfd7cdc945378b2eb973237345bc.json"}}, {"family": "Xu", "given": "Zhongwei", "initials": "Z", "orcid": "0000-0001-5178-3437", "researcher": {"href": "https://publications.scilifelab.se/researcher/f056000b3af842bda8cdd411da7d44ad.json"}}, {"family": "Zhang", "given": "Jingdian", "initials": "J", "orcid": "0000-0002-5685-8386", "researcher": {"href": "https://publications.scilifelab.se/researcher/e208f3fec0f34151a5916ff260e2ace7.json"}}, {"family": "He", "given": "Yibo", "initials": "Y", "orcid": "0000-0003-0659-2150", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e734ee308394c35ba53ef6ed344cfa7.json"}}, {"family": "Romero Castillo", "given": "Laura", "initials": "L", "orcid": "0000-0002-0271-212X", "researcher": {"href": "https://publications.scilifelab.se/researcher/432706cab4ec46258698725df3b02f6c.json"}}, {"family": "Abolhassani", "given": "Hassan", "initials": "H", "orcid": "0000-0002-4838-0407", "researcher": {"href": "https://publications.scilifelab.se/researcher/20370042ca1045c3bcaac67821a93df2.json"}}, {"family": "Xu", "given": "Bingze", "initials": "B", "orcid": "0000-0002-5341-1722", "researcher": {"href": "https://publications.scilifelab.se/researcher/d262ebec52004d1f8bc77d43cafe0cc7.json"}}, {"family": "Viljanen", "given": "Johan", "initials": "J", "orcid": "0009-0003-7291-4178", "researcher": {"href": "https://publications.scilifelab.se/researcher/2519e15fb9c74494a72cfcea38c304ca.json"}}, {"family": "Rorbach", "given": "Joanna", "initials": "J", "orcid": "0000-0002-2891-2840", "researcher": {"href": "https://publications.scilifelab.se/researcher/a069374613a7403b818ce7ca400f3627.json"}}, {"family": "Fernandez Lahore", "given": "Gonzalo", "initials": "G", "orcid": "0000-0002-4291-0251", "researcher": {"href": "https://publications.scilifelab.se/researcher/520747ac45e94b0fb8f0fb08b849eecc.json"}}, {"family": "Gjertsson", "given": "Inger", "initials": "I", "orcid": "0000-0002-9301-4844", "researcher": {"href": "https://publications.scilifelab.se/researcher/56e95592e89f43cba8eb30bd32da1cc8.json"}}, {"family": "Kastbom", "given": "Alf", "initials": "A", "orcid": "0000-0001-7187-1477", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9b6d835959e4613995904bf3a01733c.json"}}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4dd47b8ca1436e8a26fdea33f5e7f6.json"}}, {"family": "Kihlberg", "given": "Jan", "initials": "J", "orcid": "0000-0002-4205-6040", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9805d4f39cc48f79a6e6ba076917021.json"}}, {"family": "Zubarev", "given": "Roman A", "initials": "RA", "orcid": "0000-0001-9839-2089", "researcher": {"href": "https://publications.scilifelab.se/researcher/e971b9cdec2b4411934f9c5d535da8b4.json"}}, {"family": "Burkhardt", "given": "Harald", "initials": "H", "orcid": "0000-0002-6261-3131", "researcher": {"href": "https://publications.scilifelab.se/researcher/89e31cfcedb24f4ba63420e8ac7903a6.json"}}, {"family": "Holmdahl", "given": "Rikard", "initials": "R", "orcid": "0000-0002-4969-2576", "researcher": {"href": "https://publications.scilifelab.se/researcher/49e60d22dd1a4dd1a4ca5a50d9fc4fc7.json"}}], "type": "journal article", "published": "2023-11-06", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "220", "issue": "11", "issn-l": "0022-1007"}, "abstract": "B cells undergo several rounds of selection to eliminate potentially pathogenic autoreactive clones, but in contrast to T cells, evidence of positive selection of autoreactive B cells remains moot. Using unique tetramers, we traced natural autoreactive B cells (C1-B) specific for a defined triple-helical epitope on collagen type-II (COL2), constituting a sizeable fraction of the physiological B cell repertoire in mice, rats, and humans. Adoptive transfer of C1-B suppressed arthritis independently of IL10, separating them from IL10-secreting regulatory B cells. Single-cell sequencing revealed an antigen processing and presentation signature, including induced expression of CD72 and CCR7 as surface markers. C1-B presented COL2 to T cells and induced the expansion of regulatory T cells in a contact-dependent manner. CD72 blockade impeded this effect suggesting a new downstream suppressor mechanism that regulates antigen-specific T cell tolerization. Thus, our results indicate that autoreactive antigen-specific na\u00efve B cells tolerize infiltrating T cells against self-antigens to impede the development of tissue-specific autoimmune inflammation.", "doi": "10.1084/jem.20230101", "pmid": "37695523", "labels": {"Bioinformatics Support and Infrastructure": "Service", "Bioinformatics Support, Infrastructure and Training": "Service", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10494526"}, {"db": "pii", "key": "276247"}], "notes": [], "created": "2023-11-16T12:01:57.118Z", "modified": "2024-01-16T13:48:31.724Z"}, {"entity": "publication", "iuid": "4371a4380e6d4e3294f5c4116411dd13", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4371a4380e6d4e3294f5c4116411dd13.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4371a4380e6d4e3294f5c4116411dd13"}}, "title": "Immune-interacting lymphatic endothelial subtype at capillary terminals drives lymphatic malformation.", "authors": [{"family": "Petkova", "given": "Milena", "initials": "M", "orcid": "0000-0002-7186-7256", "researcher": {"href": "https://publications.scilifelab.se/researcher/458b9dbc408c4118b97be343da8b3b49.json"}}, {"family": "Kraft", "given": "Marle", "initials": "M", "orcid": "0000-0002-3523-7003", "researcher": {"href": "https://publications.scilifelab.se/researcher/6bac6d144f4143b7ad9ad0a9058d95a0.json"}}, {"family": "Stritt", "given": "Simon", "initials": "S", "orcid": "0000-0002-4299-4934", "researcher": {"href": "https://publications.scilifelab.se/researcher/b561f8d6fb1a46d0ae76c66e440956a1.json"}}, {"family": "Martinez-Corral", "given": "Ines", "initials": "I", "orcid": "0000-0001-9194-2412", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f961131890c4422b8ce5a5d2d1f1dc9.json"}}, {"family": "Orts\u00e4ter", "given": "Henrik", "initials": "H", "orcid": "0000-0002-4046-4702", "researcher": {"href": "https://publications.scilifelab.se/researcher/1f597cc7c8104728ae168db36a8ee9e7.json"}}, {"family": "Vanlandewijck", "given": "Michael", "initials": "M", "orcid": "0000-0002-0709-7808", "researcher": {"href": "https://publications.scilifelab.se/researcher/aa2148fbafb44d59bd110e36bd77769c.json"}}, {"family": "Jakic", "given": "Bojana", "initials": "B", "orcid": "0000-0002-2339-5928", "researcher": {"href": "https://publications.scilifelab.se/researcher/31f0bb6137144060a45a40650aacadc7.json"}}, {"family": "Baselga", "given": "Eul\u00e0lia", "initials": "E", "orcid": "0000-0003-1086-8439", "researcher": {"href": "https://publications.scilifelab.se/researcher/12b835a79f01492e82d1280c8050e01b.json"}}, {"family": "Castillo", "given": "Sandra D", "initials": "SD", "orcid": "0000-0002-7007-3155", "researcher": {"href": "https://publications.scilifelab.se/researcher/de3d0367a9d8474197f66365c1b5c040.json"}}, {"family": "Graupera", "given": "Mariona", "initials": "M", "orcid": "0000-0003-4608-4185", "researcher": {"href": "https://publications.scilifelab.se/researcher/76ead57229884f90bff307099a9a70ea.json"}}, {"family": "Betsholtz", "given": "Christer", "initials": "C", "orcid": "0000-0002-8494-971X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a00cfe9d521047f280978d84d7dcf1b3.json"}}, {"family": "M\u00e4kinen", "given": "Taija", "initials": "T", "orcid": "0000-0002-9338-1257", "researcher": {"href": "https://publications.scilifelab.se/researcher/bf99a0589d1f4532b532bfc575edaada.json"}}], "type": "journal article", "published": "2023-04-03", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "220", "issue": "4", "issn-l": "0022-1007"}, "abstract": "Oncogenic mutations in PIK3CA, encoding p110\u03b1-PI3K, are a common cause of venous and lymphatic malformations. Vessel type-specific disease pathogenesis is poorly understood, hampering development of efficient therapies. Here, we reveal a new immune-interacting subtype of Ptx3-positive dermal lymphatic capillary endothelial cells (iLECs) that recruit pro-lymphangiogenic macrophages to promote progressive lymphatic overgrowth. Mouse model of Pik3caH1047R-driven vascular malformations showed that proliferation was induced in both venous and lymphatic ECs but sustained selectively in LECs of advanced lesions. Single-cell transcriptomics identified the iLEC population, residing at lymphatic capillary terminals of normal vasculature, that was expanded in Pik3caH1047R mice. Expression of pro-inflammatory genes, including monocyte/macrophage chemokine Ccl2, in Pik3caH1047R-iLECs was associated with recruitment of VEGF-C-producing macrophages. Macrophage depletion, CCL2 blockade, or anti-inflammatory COX-2 inhibition limited Pik3caH1047R-driven lymphangiogenesis. Thus, targeting the paracrine crosstalk involving iLECs and macrophages provides a new therapeutic opportunity for lymphatic malformations. Identification of iLECs further indicates that peripheral lymphatic vessels not only respond to but also actively orchestrate inflammatory processes.", "doi": "10.1084/jem.20220741", "pmid": "36688917", "labels": {"Bioinformatics Support and Infrastructure": "Service", "Bioinformatics Support, Infrastructure and Training": "Service", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9884640"}, {"db": "pii", "key": "213817"}], "notes": [], "created": "2023-11-16T12:40:26.995Z", "modified": "2024-01-16T13:48:33.714Z"}, {"entity": "publication", "iuid": "c387fb518b4a4cbfa7a96172dc66cda2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c387fb518b4a4cbfa7a96172dc66cda2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c387fb518b4a4cbfa7a96172dc66cda2"}}, "title": "Human CD38 regulates B cell antigen receptor dynamic organization in normal and malignant B cells.", "authors": [{"family": "Camponeschi", "given": "Alessandro", "initials": "A", "orcid": "0000-0002-6472-2438", "researcher": {"href": "https://publications.scilifelab.se/researcher/ccbaffafd6a24f4abed1e402219fa472.json"}}, {"family": "Kl\u00e4sener", "given": "Kathrin", "initials": "K", "orcid": "0000-0002-5969-2553", "researcher": {"href": "https://publications.scilifelab.se/researcher/1a46292d2b6d4a46897e5b2fdcbaea25.json"}}, {"family": "Sundell", "given": "Timothy", "initials": "T", "orcid": "0000-0001-6244-1790", "researcher": {"href": "https://publications.scilifelab.se/researcher/b856449e4da74c9b913751835d0fdc50.json"}}, {"family": "Lundqvist", "given": "Christina", "initials": "C", "orcid": "0000-0002-2256-4072", "researcher": {"href": "https://publications.scilifelab.se/researcher/10b339e6cc1f48f3a5f736201038ee59.json"}}, {"family": "Manna", "given": "Paul T", "initials": "PT", "orcid": "0000-0002-2260-2075", "researcher": {"href": "https://publications.scilifelab.se/researcher/ad6605820c294d408293b5a3cc6fdcdc.json"}}, {"family": "Ayoubzadeh", "given": "Negar", "initials": "N", "orcid": "0000-0002-9562-1947", "researcher": {"href": "https://publications.scilifelab.se/researcher/5a5abf127036470a8e62917ece7cfc1b.json"}}, {"family": "Sundqvist", "given": "Martina", "initials": "M", "orcid": "0000-0002-0859-0792", "researcher": {"href": "https://publications.scilifelab.se/researcher/24e6273caf214eab9f4c7c4c8f20a186.json"}}, {"family": "Thorarinsdottir", "given": "Katrin", "initials": "K", "orcid": "0000-0003-2708-1990", "researcher": {"href": "https://publications.scilifelab.se/researcher/dcabbfe494e84a948ef32d94b13fd795.json"}}, {"family": "Gatto", "given": "Mariele", "initials": "M", "orcid": "0000-0003-4012-1248", "researcher": {"href": "https://publications.scilifelab.se/researcher/89af57d620344ca58a1e20c889075002.json"}}, {"family": "Visentini", "given": "Marcella", "initials": "M", "orcid": "0000-0002-4053-6091", "researcher": {"href": "https://publications.scilifelab.se/researcher/d5f4c67ea260466f870cce36476ebf0b.json"}}, {"family": "\u00d6nnheim", "given": "Karin", "initials": "K", "orcid": "0000-0001-5415-6842", "researcher": {"href": "https://publications.scilifelab.se/researcher/e91d446634074987a47b6d0451f33010.json"}}, {"family": "Aranburu", "given": "Alaitz", "initials": "A", "orcid": "0000-0002-7024-7733", "researcher": {"href": "https://publications.scilifelab.se/researcher/41cd21f636e340af93fb3bb0544b158b.json"}}, {"family": "Forsman", "given": "Huamei", "initials": "H", "orcid": "0000-0002-8781-284X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d47631a564bc43f8b37f31adc1aaa043.json"}}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}, {"family": "Fogelstrand", "given": "Linda", "initials": "L", "orcid": "0000-0003-3698-8519", "researcher": {"href": "https://publications.scilifelab.se/researcher/f39ff709aa0646b8ad5e520780a0ad49.json"}}, {"family": "Gjertsson", "given": "Inger", "initials": "I", "orcid": "0000-0002-9301-4844", "researcher": {"href": "https://publications.scilifelab.se/researcher/56e95592e89f43cba8eb30bd32da1cc8.json"}}, {"family": "Reth", "given": "Michael", "initials": "M", "orcid": "0000-0002-1025-7198", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9c45a119af24ccdb30c04ceff46ceaf.json"}}, {"family": "M\u00e5rtensson", "given": "Inga-Lill", "initials": "IL", "orcid": "0000-0003-3415-0560", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4f5cf8b693a4915b71a58e700768d6f.json"}}], "type": "journal article", "published": "2022-09-05", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "219", "issue": "9", "issn-l": "0022-1007"}, "abstract": "CD38 is a multifunctional protein expressed on the surface of B cells in healthy individuals but also in B cell malignancies. Previous studies have suggested a connection between CD38 and components of the IgM class B cell antigen receptor (IgM-BCR) and its coreceptor complex. Here, we provide evidence that CD38 is closely associated with CD19 in resting B cells and with the IgM-BCR upon engagement. We show that targeting CD38 with an antibody, or removing this molecule with CRISPR/Cas9, inhibits the association of CD19 with the IgM-BCR, impairing BCR signaling in normal and malignant B cells. Together, our data suggest that CD38 is a new member of the BCR coreceptor complex, where it exerts a modulatory effect on B cell activation upon antigen recognition by regulating CD19. Our study also reveals a new mechanism where \u03b1-CD38 antibodies could be a valuable option in therapeutic approaches to B cell malignancies driven by aberrant BCR signaling.", "doi": "10.1084/jem.20220201", "pmid": "35819358", "labels": {"Glycoproteomics and MS Proteomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9280193"}, {"db": "pii", "key": "213348"}], "notes": [], "created": "2023-03-07T14:34:14.812Z", "modified": "2024-01-16T13:46:28.455Z"}, {"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": "3725797cb1794d6a9449232d6e451b75", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3725797cb1794d6a9449232d6e451b75.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3725797cb1794d6a9449232d6e451b75"}}, "title": "Bhlhe40 function in activated B and TFH cells restrains the GC reaction and prevents lymphomagenesis.", "authors": [{"family": "Rauschmeier", "given": "Ren\u00e9", "initials": "R", "orcid": "0000-0002-1073-4046", "researcher": {"href": "https://publications.scilifelab.se/researcher/79f8968c617e4d5db26486c2c467b76c.json"}}, {"family": "Reinhardt", "given": "Annika", "initials": "A", "orcid": "0000-0002-7468-9985", "researcher": {"href": "https://publications.scilifelab.se/researcher/8f556d6e77814aa4808f373cfcb01639.json"}}, {"family": "Gustafsson", "given": "Charlotte", "initials": "C", "orcid": "0000-0003-4997-6795", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc6de7e7552d4d4c9a8bee9e992d3e6b.json"}}, {"family": "Glaros", "given": "Vassilis", "initials": "V", "orcid": "0000-0001-6211-9515", "researcher": {"href": "https://publications.scilifelab.se/researcher/52e51bdbb2d2472582cc6387dc381746.json"}}, {"family": "Artemov", "given": "Artem V", "initials": "AV", "orcid": "0000-0002-0056-4549", "researcher": {"href": "https://publications.scilifelab.se/researcher/96355d3e9b394fb790d4f8785dec6d68.json"}}, {"family": "Dunst", "given": "Josefine", "initials": "J", "orcid": "0000-0003-0061-0901", "researcher": {"href": "https://publications.scilifelab.se/researcher/968039236aae4f19b97c4cdac9d5d3d7.json"}}, {"family": "Taneja", "given": "Reshma", "initials": "R", "orcid": "0000-0001-6214-6177", "researcher": {"href": "https://publications.scilifelab.se/researcher/1d94af8d9565471d978e934e90544144.json"}}, {"family": "Adameyko", "given": "Igor", "initials": "I", "orcid": "0000-0001-5471-0356", "researcher": {"href": "https://publications.scilifelab.se/researcher/346f484a56cb4ad5b866b194ccd44e4f.json"}}, {"family": "M\u00e5nsson", "given": "Robert", "initials": "R", "orcid": "0000-0003-0738-0328", "researcher": {"href": "https://publications.scilifelab.se/researcher/eafa5ad22891454298bf31a94d77175f.json"}}, {"family": "Busslinger", "given": "Meinrad", "initials": "M", "orcid": "0000-0002-9111-9351", "researcher": {"href": "https://publications.scilifelab.se/researcher/363a1d70b8a34b55a0d0e57eb7d60550.json"}}, {"family": "Kreslavsky", "given": "Taras", "initials": "T", "orcid": "0000-0002-6672-1914", "researcher": {"href": "https://publications.scilifelab.se/researcher/94bb90e31ed1447a9835a1adae1c8daa.json"}}], "type": "journal article", "published": "2022-02-07", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "219", "issue": "2", "issn-l": "0022-1007"}, "abstract": "The generation of high-affinity antibodies against pathogens and vaccines requires the germinal center (GC) reaction, which relies on a complex interplay between specialized effector B and CD4 T lymphocytes, the GC B cells and T follicular helper (TFH) cells. Intriguingly, several positive key regulators of the GC reaction are common for both cell types. Here, we report that the transcription factor Bhlhe40 is a crucial cell-intrinsic negative regulator affecting both the B and T cell sides of the GC reaction. In activated CD4 T cells, Bhlhe40 was required to restrain proliferation, thus limiting the number of TFH cells. In B cells, Bhlhe40 executed its function in the first days after immunization by selectively restricting the generation of the earliest GC B cells but not of early memory B cells or plasmablasts. Bhlhe40-deficient mice with progressing age succumbed to a B cell lymphoma characterized by the accumulation of monoclonal GC B-like cells and polyclonal TFH cells in various tissues.", "doi": "10.1084/jem.20211406", "pmid": "34919144", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "212923"}, {"db": "pmc", "key": "PMC8689665"}], "notes": [], "created": "2022-11-09T15:55:32.305Z", "modified": "2024-01-16T13:48:37.533Z"}, {"entity": "publication", "iuid": "2f5b1a01cfc945bcbe4a0dad8b6f87a2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2f5b1a01cfc945bcbe4a0dad8b6f87a2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2f5b1a01cfc945bcbe4a0dad8b6f87a2"}}, "title": "Extensive dissemination and intraclonal maturation of HIV Env vaccine-induced B cell responses.", "authors": [{"family": "Phad", "given": "Ganesh E", "initials": "GE", "orcid": "0000-0002-0047-6899", "researcher": {"href": "https://publications.scilifelab.se/researcher/a231cb66fab941df968de8f204c39782.json"}}, {"family": "Pushparaj", "given": "Pradeepa", "initials": "P"}, {"family": "Tran", "given": "Karen", "initials": "K"}, {"family": "Dubrovskaya", "given": "Viktoriya", "initials": "V", "orcid": "0000-0002-6563-0017", "researcher": {"href": "https://publications.scilifelab.se/researcher/58a673f27e224aed933a62c62bc16737.json"}}, {"family": "\u00c0dori", "given": "Monika", "initials": "M"}, {"family": "Martinez-Murillo", "given": "Paola", "initials": "P", "orcid": "0000-0003-0888-3867", "researcher": {"href": "https://publications.scilifelab.se/researcher/63aec47c762643f5b343ada040f1bcaa.json"}}, {"family": "V\u00e1zquez Bernat", "given": "N\u00e9stor", "initials": "N"}, {"family": "Singh", "given": "Suruchi", "initials": "S", "orcid": "0000-0002-4306-9345", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa3266660bdc40e09750af4f22d2ecd5.json"}}, {"family": "Dionne", "given": "Gilman", "initials": "G"}, {"family": "O'Dell", "given": "Sijy", "initials": "S"}, {"family": "Bhullar", "given": "Komal", "initials": "K"}, {"family": "Narang", "given": "Sanjana", "initials": "S"}, {"family": "Sorini", "given": "Chiara", "initials": "C", "orcid": "0000-0002-6803-8377", "researcher": {"href": "https://publications.scilifelab.se/researcher/975173f37f144f06b236817e224de7f0.json"}}, {"family": "Villablanca", "given": "Eduardo J", "initials": "EJ", "orcid": "0000-0001-9522-9729", "researcher": {"href": "https://publications.scilifelab.se/researcher/6c6a2dde2d8f40ef82dfba0cf1b52c0d.json"}}, {"family": "Sundling", "given": "Christopher", "initials": "C", "orcid": "0000-0002-6138-690X", "researcher": {"href": "https://publications.scilifelab.se/researcher/89c1e689a46b4b14adb0dc99e1c0a58c.json"}}, {"family": "Murrell", "given": "Benjamin", "initials": "B"}, {"family": "Mascola", "given": "John R", "initials": "JR"}, {"family": "Shapiro", "given": "Lawrence", "initials": "L"}, {"family": "Pancera", "given": "Marie", "initials": "M"}, {"family": "Martin", "given": "Marcel", "initials": "M"}, {"family": "Corcoran", "given": "Martin", "initials": "M"}, {"family": "Wyatt", "given": "Richard T", "initials": "RT"}, {"family": "Karlsson Hedestam", "given": "Gunilla B", "initials": "GB", "orcid": "0000-0001-7255-9047", "researcher": {"href": "https://publications.scilifelab.se/researcher/ad611ac9c76e44989e585edc4d7ff713.json"}}], "type": "journal article", "published": "2020-02-03", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "217", "issue": "2", "pages": null, "issn-l": "0022-1007"}, "abstract": "Well-ordered HIV-1 envelope glycoprotein (Env) trimers are prioritized for clinical evaluation, and there is a need for an improved understanding about how elicited B cell responses evolve following immunization. To accomplish this, we prime-boosted rhesus macaques with clade C NFL trimers and identified 180 unique Ab lineages from \u223c1,000 single-sorted Env-specific memory B cells. We traced all lineages in high-throughput heavy chain (HC) repertoire (Rep-seq) data generated from multiple immune compartments and time points and expressed several as monoclonal Abs (mAbs). Our results revealed broad dissemination and high levels of somatic hypermutation (SHM) of most lineages, including tier 2 virus neutralizing lineages, following boosting. SHM was highest in the Ab complementarity determining regions (CDRs) but also surprisingly high in the framework regions (FRs), especially FR3. Our results demonstrate the capacity of the immune system to affinity-mature large numbers of Env-specific B cell lineages simultaneously, supporting the use of regimens consisting of repeated boosts to improve each Ab, even those belonging to less expanded lineages.", "doi": "10.1084/jem.20191155", "pmid": "31704807", "labels": {"Bioinformatics Long-term Support WABI": "Collaborative", "Bioinformatics Support, Infrastructure and Training": "Collaborative", "Bioinformatics (NBIS)": "Collaborative"}, "xrefs": [{"db": "pii", "key": "jem.20191155"}, {"db": "pmc", "key": "PMC7041718"}], "notes": [], "created": "2021-04-06T10:57:24.634Z", "modified": "2021-11-10T12:54:12.139Z"}, {"entity": "publication", "iuid": "6e423bae8c7141548aaf0589c8f8adf7", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6e423bae8c7141548aaf0589c8f8adf7.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6e423bae8c7141548aaf0589c8f8adf7"}}, "title": "The Nlrp6 inflammasome is not required for baseline colonic inner mucus layer formation or function.", "authors": [{"family": "Volk", "given": "Joana K", "initials": "JK"}, {"family": "Nystr\u00f6m", "given": "Elisabeth E L", "initials": "EEL"}, {"family": "van der Post", "given": "Sjoerd", "initials": "S"}, {"family": "Abad", "given": "Beatriz M", "initials": "BM"}, {"family": "Schroeder", "given": "Bjoern O", "initials": "BO", "orcid": "0000-0002-6716-8284", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2c57653fc214cbcbb242cbbc524d517.json"}}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Svensson", "given": "Frida", "initials": "F"}, {"family": "J\u00e4verfelt", "given": "Sofia", "initials": "S"}, {"family": "Johansson", "given": "Malin E V", "initials": "MEV", "orcid": "0000-0002-4237-6677", "researcher": {"href": "https://publications.scilifelab.se/researcher/520dab35c19049c8b3f1083a92e60d56.json"}}, {"family": "Hansson", "given": "Gunnar C", "initials": "GC", "orcid": "0000-0002-1900-1869", "researcher": {"href": "https://publications.scilifelab.se/researcher/44b3815603154322a6dac16f2fc1c1e9.json"}}, {"family": "Birchenough", "given": "George M H", "initials": "GMH", "orcid": "0000-0003-2283-2353", "researcher": {"href": "https://publications.scilifelab.se/researcher/aecb4d51bffc490d87b0a4fffb7de59a.json"}}], "type": "journal article", "published": "2019-11-04", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "216", "issue": "11", "pages": "2602-2618", "issn-l": "0022-1007"}, "abstract": "The inner mucus layer (IML) is a critical barrier that protects the colonic epithelium from luminal threats and inflammatory bowel disease. Innate immune signaling is thought to regulate IML formation via goblet cell Nlrp6 inflammasome activity that controls secretion of the mucus structural component Muc2. We report that isolated colonic goblet cells express components of several inflammasomes; however, analysis of IML properties in multiple inflammasome-deficient mice, including littermate-controlled Nlrp6 , detect a functional IML barrier in all strains. Analysis of mice lacking inflammasome substrate cytokines identifies a defective IML in -/-Il18 mice, but this phenotype is ultimately traced to a microbiota-driven, Il18-independent effect. Analysis of phenotypic transfer between IML-deficient and IML-intact mice finds that the Bacteroidales family S24-7 (Muribaculaceae) and genus -/-Adlercrutzia consistently positively covary with IML barrier function. Together, our results demonstrate that baseline IML formation and function is independent of inflammasome activity and highlights the role of the microbiota in determining IML barrier function.", "doi": "10.1084/jem.20190679", "pmid": "31420376", "labels": {"Integrated Microscopy Technologies Gothenburg": "Service"}, "xrefs": [{"db": "pii", "key": "jem.20190679"}, {"db": "pmc", "key": "PMC6829596"}], "notes": [], "created": "2020-01-23T16:14:20.940Z", "modified": "2021-06-16T16:20:41.684Z"}, {"entity": "publication", "iuid": "5391da14e19849d0a34e1c5dcfdc8b4c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5391da14e19849d0a34e1c5dcfdc8b4c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5391da14e19849d0a34e1c5dcfdc8b4c"}}, "title": "Streptococcus pyogenes evades adaptive immunity through specific IgG glycan hydrolysis.", "authors": [{"family": "Naegeli", "given": "Andreas", "initials": "A"}, {"family": "Bratanis", "given": "Eleni", "initials": "E"}, {"family": "Karlsson", "given": "Christofer", "initials": "C"}, {"family": "Shannon", "given": "Oonagh", "initials": "O"}, {"family": "Kalluru", "given": "Raja", "initials": "R"}, {"family": "Linder", "given": "Adam", "initials": "A"}, {"family": "Malmstr\u00f6m", "given": "Johan", "initials": "J"}, {"family": "Collin", "given": "Mattias", "initials": "M"}], "type": "journal article", "published": "2019-07-01", "journal": {"volume": "216", "issn": "1540-9538", "issue": "7", "pages": "1615-1629", "title": "J. Exp. Med.", "issn-l": "0022-1007"}, "abstract": "Streptococcus pyogenes (Group A streptococcus; GAS) is a human pathogen causing diseases from uncomplicated tonsillitis to life-threatening invasive infections. GAS secretes EndoS, an endoglycosidase that specifically cleaves the conserved N-glycan on IgG antibodies. In vitro, removal of this glycan impairs IgG effector functions, but its relevance to GAS infection in vivo is unclear. Using targeted mass spectrometry, we characterized the effects of EndoS on host IgG glycosylation during the course of infections in humans. Substantial IgG glycan hydrolysis occurred at the site of infection and systemically in the severe cases. We demonstrated decreased resistance to phagocytic killing of GAS lacking EndoS in vitro and decreased virulence in a mouse model of invasive infection. This is the first described example of specific bacterial IgG glycan hydrolysis during infection and thereby verifies the hypothesis that EndoS modifies antibodies in vivo. This mechanisms of immune evasion could have implications for treatment of severe GAS infections and for future efforts at vaccine development.", "doi": "10.1084/jem.20190293", "pmid": "31092533", "labels": {"Structural Proteomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "jem.20190293"}, {"db": "pmc", "key": "PMC6605743"}], "notes": [], "created": "2020-01-27T10:12:46.186Z", "modified": "2021-05-24T15:39:50.208Z"}, {"entity": "publication", "iuid": "c39c34f5c43d412487543502873a6519", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c39c34f5c43d412487543502873a6519.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c39c34f5c43d412487543502873a6519"}}, "title": "Niche-mediated depletion of the normal hematopoietic stem cell reservoir by Flt3-ITD-induced myeloproliferation.", "authors": [{"family": "Mead", "given": "Adam J", "initials": "AJ"}, {"family": "Neo", "given": "Wen Hao", "initials": "WH"}, {"family": "Barkas", "given": "Nikolaos", "initials": "N"}, {"family": "Matsuoka", "given": "Sahoko", "initials": "S"}, {"family": "Giustacchini", "given": "Alice", "initials": "A"}, {"family": "Facchini", "given": "Raffaella", "initials": "R"}, {"family": "Thongjuea", "given": "Supat", "initials": "S"}, {"family": "Jamieson", "given": "Lauren", "initials": "L"}, {"family": "Booth", "given": "Christopher A G", "initials": "CAG"}, {"family": "Fordham", "given": "Nicholas", "initials": "N"}, {"family": "Di Genua", "given": "Cristina", "initials": "C"}, {"family": "Atkinson", "given": "Deborah", "initials": "D"}, {"family": "Chowdhury", "given": "Onima", "initials": "O"}, {"family": "Repapi", "given": "Emmanouela", "initials": "E"}, {"family": "Gray", "given": "Nicki", "initials": "N"}, {"family": "Kharazi", "given": "Shabnam", "initials": "S"}, {"family": "Clark", "given": "Sally-Ann", "initials": "SA"}, {"family": "Bouriez", "given": "Tiphaine", "initials": "T"}, {"family": "Woll", "given": "Petter", "initials": "P"}, {"family": "Suda", "given": "Toshio", "initials": "T"}, {"family": "Nerlov", "given": "Claus", "initials": "C"}, {"family": "Jacobsen", "given": "Sten Eirik W", "initials": "SEW"}], "type": "journal article", "published": "2017-07-03", "journal": {"volume": "214", "issn": "1540-9538", "issue": "7", "pages": "2005-2021", "title": "J. Exp. Med.", "issn-l": "0022-1007"}, "abstract": "Although previous studies suggested that the expression of FMS-like tyrosine kinase 3 (Flt3) initiates downstream of mouse hematopoietic stem cells (HSCs), FLT3 internal tandem duplications (FLT3 ITDs) have recently been suggested to intrinsically suppress HSCs. Herein, single-cell interrogation found Flt3 mRNA expression to be absent in the large majority of phenotypic HSCs, with a strong negative correlation between Flt3 and HSC-associated gene expression. Flt3-ITD knock-in mice showed reduced numbers of phenotypic HSCs, with an even more severe loss of long-term repopulating HSCs, likely reflecting the presence of non-HSCs within the phenotypic HSC compartment. Competitive transplantation experiments established that Flt3-ITD compromises HSCs through an extrinsically mediated mechanism of disrupting HSC-supporting bone marrow stromal cells, with reduced numbers of endothelial and mesenchymal stromal cells showing increased inflammation-associated gene expression. Tumor necrosis factor (TNF), a cell-extrinsic potent negative regulator of HSCs, was overexpressed in bone marrow niche cells from FLT3-ITD mice, and anti-TNF treatment partially rescued the HSC phenotype. These findings, which establish that Flt3-ITD-driven myeloproliferation results in cell-extrinsic suppression of the normal HSC reservoir, are of relevance for several aspects of acute myeloid leukemia biology.", "doi": "10.1084/jem.20161418", "pmid": "28637883", "labels": {"National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Applications)": "Service", "NGI Stockholm (Genomics Production)": "Service"}, "xrefs": [{"db": "pii", "key": "jem.20161418"}, {"db": "pmc", "key": "PMC5502426"}], "notes": [], "created": "2018-01-10T09:44:12.302Z", "modified": "2020-01-21T13:56:10.871Z"}, {"entity": "publication", "iuid": "1ccd294dde83454aac3f82a1398af6d8", "links": {"self": {"href": "https://publications.scilifelab.se/publication/1ccd294dde83454aac3f82a1398af6d8.json"}, "display": {"href": "https://publications.scilifelab.se/publication/1ccd294dde83454aac3f82a1398af6d8"}}, "title": "Functional loss of I\u03baB\u03b5 leads to NF-\u03baB deregulation in aggressive chronic lymphocytic leukemia.", "authors": [{"family": "Mansouri", "given": "Larry", "initials": "L"}, {"family": "Sutton", "given": "Lesley-Ann", "initials": "LA"}, {"family": "Ljungstr\u00f6m", "given": "Viktor", "initials": "V"}, {"family": "Bondza", "given": "Sina", "initials": "S"}, {"family": "Arng\u00e5rden", "given": "Linda", "initials": "L"}, {"family": "Bhoi", "given": "Sujata", "initials": "S"}, {"family": "Larsson", "given": "Jimmy", "initials": "J"}, {"family": "Cortese", "given": "Diego", "initials": "D"}, {"family": "Kalushkova", "given": "Antonia", "initials": "A"}, {"family": "Plevova", "given": "Karla", "initials": "K"}, {"family": "Young", "given": "Emma", "initials": "E"}, {"family": "Gunnarsson", "given": "Rebeqa", "initials": "R"}, {"family": "Falk-S\u00f6rqvist", "given": "Elin", "initials": "E"}, {"family": "L\u00f6nn", "given": "Peter", "initials": "P"}, {"family": "Muggen", "given": "Alice F", "initials": "AF"}, {"family": "Yan", "given": "Xiao-Jie", "initials": "XJ"}, {"family": "Sander", "given": "Birgitta", "initials": "B"}, {"family": "Enblad", "given": "Gunilla", "initials": "G"}, {"family": "Smedby", "given": "Karin E", "initials": "KE"}, {"family": "Juliusson", "given": "Gunnar", "initials": "G"}, {"family": "Belessi", "given": "Chrysoula", "initials": "C"}, {"family": "Rung", "given": "Johan", "initials": "J"}, {"family": "Chiorazzi", "given": "Nicholas", "initials": "N"}, {"family": "Strefford", "given": "Jonathan C", "initials": "JC"}, {"family": "Langerak", "given": "Anton W", "initials": "AW"}, {"family": "Pospisilova", "given": "Sarka", "initials": "S"}, {"family": "Davi", "given": "Frederic", "initials": "F"}, {"family": "Hellstr\u00f6m", "given": "Mats", "initials": "M"}, {"family": "Jernberg-Wiklund", "given": "Helena", "initials": "H"}, {"family": "Ghia", "given": "Paolo", "initials": "P"}, {"family": "S\u00f6derberg", "given": "Ola", "initials": "O"}, {"family": "Stamatopoulos", "given": "Kostas", "initials": "K"}, {"family": "Nilsson", "given": "Mats", "initials": "M", "orcid": "0000-0001-9985-0387", "researcher": {"href": "https://publications.scilifelab.se/researcher/197cf8ba83ba430f9712b2f4d94dc3e5.json"}}, {"family": "Rosenquist", "given": "Richard", "initials": "R"}], "type": "journal article", "published": "2015-06-01", "journal": {"volume": "212", "issn": "1540-9538", "issue": "6", "pages": "833-843", "title": "J. Exp. Med.", "issn-l": "0022-1007"}, "abstract": "NF-\u03baB is constitutively activated in chronic lymphocytic leukemia (CLL); however, the implicated molecular mechanisms remain largely unknown. Thus, we performed targeted deep sequencing of 18 core complex genes within the NF-\u03baB pathway in a discovery and validation CLL cohort totaling 315 cases. The most frequently mutated gene was NFKBIE (21/315 cases; 7%), which encodes I\u03baB\u03b5, a negative regulator of NF-\u03baB in normal B cells. Strikingly, 13 of these cases carried an identical 4-bp frameshift deletion, resulting in a truncated protein. Screening of an additional 377 CLL cases revealed that NFKBIE aberrations predominated in poor-prognostic patients and were associated with inferior outcome. Minor subclones and/or clonal evolution were also observed, thus potentially linking this recurrent event to disease progression. Compared with wild-type patients, NFKBIE-deleted cases showed reduced I\u03baB\u03b5 protein levels and decreased p65 inhibition, along with increased phosphorylation and nuclear translocation of p65. Considering the central role of B cell receptor (BcR) signaling in CLL pathobiology, it is notable that I\u03baB\u03b5 loss was enriched in aggressive cases with distinctive stereotyped BcR, likely contributing to their poor prognosis, and leading to an altered response to BcR inhibitors. Because NFKBIE deletions were observed in several other B cell lymphomas, our findings suggest a novel common mechanism of NF-\u03baB deregulation during lymphomagenesis.", "doi": "10.1084/jem.20142009", "pmid": "25987724", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null, "Array and Analysis Facility": null}, "xrefs": [{"db": "pii", "key": "jem.20142009"}, {"db": "pmc", "key": "PMC4451125"}], "notes": [], "created": "2017-05-02T12:57:58.790Z", "modified": "2021-07-07T13:54:46.048Z"}, {"entity": "publication", "iuid": "2a40c8ff5360435fb82e3703427063cf", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2a40c8ff5360435fb82e3703427063cf.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2a40c8ff5360435fb82e3703427063cf"}}, "title": "Epitope-specific antibody response is controlled by immunoglobulin V(H) polymorphisms.", "authors": [{"family": "Raposo", "given": "Bruno", "initials": "B"}, {"family": "Dobritzsch", "given": "Doreen", "initials": "D"}, {"family": "Ge", "given": "Changrong", "initials": "C"}, {"family": "Ekman", "given": "Diana", "initials": "D"}, {"family": "Xu", "given": "Bingze", "initials": "B"}, {"family": "Lindh", "given": "Ingrid", "initials": "I"}, {"family": "F\u00f6rster", "given": "Michael", "initials": "M"}, {"family": "Uysal", "given": "H\u00fcseyin", "initials": "H"}, {"family": "Nandakumar", "given": "Kutty Selva", "initials": "KS"}, {"family": "Schneider", "given": "Gunter", "initials": "G"}, {"family": "Holmdahl", "given": "Rikard", "initials": "R"}], "type": "journal article", "published": "2014-03-10", "journal": {"volume": "211", "issn": "1540-9538", "issue": "3", "pages": "405-411", "title": "J. Exp. Med.", "issn-l": "0022-1007"}, "abstract": "Autoantibody formation is essential for the development of certain autoimmune diseases like rheumatoid arthritis (RA). Anti-type II collagen (CII) antibodies are found in RA patients; they interact with cartilage in vivo and are often highly pathogenic in the mouse. Autoreactivity to CII is directed to multiple epitopes and conserved between mice and humans. We have previously mapped the antibody response to CII in a heterogeneous stock cohort of mice, with a strong association with the IgH locus. We positioned the genetic polymorphisms and determined the structural requirements controlling antibody recognition of one of the major CII epitopes. Polymorphisms at positions S31R and W33T of the associated variable heavy chain (VH) allele were identified and confirmed by gene sequencing. The Fab fragment binding the J1 epitope was crystallized, and site-directed mutagenesis confirmed the importance of those two variants for antigen recognition. Back mutation to germline sequence provided evidence for a preexisting recognition of the J1 epitope. These data demonstrate a genetic association of epitope-specific antibody responses with specific VH alleles, and it highlights the importance of germline-encoded antibodies in the pathogenesis of antibody-mediated autoimmune diseases.", "doi": "10.1084/jem.20130968", "pmid": "24534192", "labels": {"Protein Science Facility (PSF)": null}, "xrefs": [{"db": "pii", "key": "jem.20130968"}, {"db": "pmc", "key": "PMC3949579"}], "notes": [], "created": "2017-05-04T15:03:53.609Z", "modified": "2017-09-06T11:42:09.019Z"}], "created": "2017-05-09T09:12:52.893Z", "modified": "2020-11-27T13:14:05.036Z"}