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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B. Nabavizadeh N, et al. Among authors: casanova jl. EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18. EMBO Mol Med. 2023. PMID: 36652330 Free PMC article.
Autoantibody discovery across monogenic, acquired, and COVID-19-associated autoimmunity with scalable PhIP-seq.
Vazquez SE, Mann SA, Bodansky A, Kung AF, Quandt Z, Ferré EMN, Landegren N, Eriksson D, Bastard P, Zhang SY, Liu J, Mitchell A, Proekt I, Yu D, Mandel-Brehm C, Wang CY, Miao B, Sowa G, Zorn K, Chan AY, Tagi VM, Shimizu C, Tremoulet A, Lynch K, Wilson MR, Kämpe O, Dobbs K, Delmonte OM, Bacchetta R, Notarangelo LD, Burns JC, Casanova JL, Lionakis MS, Torgerson TR, Anderson MS, DeRisi JL. Vazquez SE, et al. Among authors: casanova jl. Elife. 2022 Oct 27;11:e78550. doi: 10.7554/eLife.78550. Elife. 2022. PMID: 36300623 Free PMC article.
Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c+ B cells.
Malle L, Patel RS, Martin-Fernandez M, Stewart OJ, Philippot Q, Buta S, Richardson A, Barcessat V, Taft J, Bastard P, Samuels J, Mircher C, Rebillat AS, Maillebouis L, Vilaire-Meunier M, Tuballes K, Rosenberg BR, Trachtman R, Casanova JL, Notarangelo LD, Gnjatic S, Bush D, Bogunovic D. Malle L, et al. Among authors: casanova jl. Nature. 2023 Mar;615(7951):305-314. doi: 10.1038/s41586-023-05736-y. Epub 2023 Feb 22. Nature. 2023. PMID: 36813963 Free PMC article.
Reconciling Mouse and Human Immunology at the Altar of Genetics.
Gros P, Casanova JL. Gros P, et al. Among authors: casanova jl. Annu Rev Immunol. 2023 Apr 26;41:39-71. doi: 10.1146/annurev-immunol-101721-065201. Epub 2022 Dec 16. Annu Rev Immunol. 2023. PMID: 36525691 Free article. Review.
Defective activation and regulation of type I interferon immunity is associated with increasing COVID-19 severity.
Smith N, Possémé C, Bondet V, Sugrue J, Townsend L, Charbit B, Rouilly V, Saint-André V, Dott T, Pozo AR, Yatim N, Schwartz O, Cervantes-Gonzalez M, Ghosn J, Bastard P, Casanova JL, Szwebel TA, Terrier B, Conlon N, O'Farrelly C, Cheallaigh CN, Bourke NM, Duffy D. Smith N, et al. Among authors: casanova jl. Nat Commun. 2022 Nov 25;13(1):7254. doi: 10.1038/s41467-022-34895-1. Nat Commun. 2022. PMID: 36434007 Free PMC article.
Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification.
Gollmann-Tepeköylü C, Graber M, Hirsch J, Mair S, Naschberger A, Pölzl L, Nägele F, Kirchmair E, Degenhart G, Demetz E, Hilbe R, Chen HY, Engert JC, Böhm A, Franz N, Lobenwein D, Lener D, Fuchs C, Weihs A, Töchterle S, Vogel GF, Schweiger V, Eder J, Pietschmann P, Seifert M, Kronenberg F, Coassin S, Blumer M, Hackl H, Meyer D, Feuchtner G, Kirchmair R, Troppmair J, Krane M, Weiss G, Tsimikas S, Thanassoulis G, Grimm M, Rupp B, Huber LA, Zhang SY, Casanova JL, Tancevski I, Holfeld J. Gollmann-Tepeköylü C, et al. Among authors: casanova jl. Circulation. 2023 May 16;147(20):1518-1533. doi: 10.1161/CIRCULATIONAHA.122.063481. Epub 2023 Apr 4. Circulation. 2023. PMID: 37013819 Free PMC article.
Correction: The oldest unvaccinated Covid-19 survivors in South America.
de Castro MV, Silva MVR, Naslavsky MS, Scliar MO, Nunes K, Passos-Bueno MR, Castelli EC, Magawa JY, Adami FL, Moretti AIS, de Oliveira VL, Boscardin SB, Cunha-Neto E, Kalil J, Jouanguy E, Bastard P, Casanova JL, Quiñones-Vega M, Sosa-Acosta P, Guedes JS, de Almeida NP, Nogueira FCS, Domont GB, Santos KS, Zatz M. de Castro MV, et al. Among authors: casanova jl. Immun Ageing. 2022 Dec 7;19(1):61. doi: 10.1186/s12979-022-00319-3. Immun Ageing. 2022. PMID: 36476248 Free PMC article. No abstract available.
Acute tubulointerstitial nephritis with or without uveitis: a novel form of post-acute COVID-19 syndrome in children.
Avramescu M, Isnard P, Temmam S, Chevalier A, Bastard P, Attia M, Berthaud R, Fila M, Dossier C, Hogan J, Ulinski T, Leguevaques D, Louillet F, Casado EM, Halimi JM, Cloarec S, Zaloszyc A, Faudeux C, Rousset-Rouvière C, Clavé S, Harambat J, Rollot E, Simon T, Nallet-Amate M, Ranchin B, Bacchetta J, Porcheret F, Bernard J, Ryckewaert A, Jamet A, Fourgeaud J, Da Rocha N, Pérot P, Kuperwasser N, Bouazza N, Rabant M, Duong Van Huyen JP, Robert MP, Zuber J, Casanova JL, Eloit M, Sermet-Gaudelus I, Boyer O. Avramescu M, et al. Among authors: casanova jl. Kidney Int. 2023 Jun;103(6):1193-1198. doi: 10.1016/j.kint.2023.02.028. Epub 2023 Mar 12. Kidney Int. 2023. PMID: 36918081 Free PMC article.
1,011 results