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2024 7
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Page 1
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.
Chan YH, Lundberg V, Le Pen J, Yuan J, Lee D, Pinci F, Volpi S, Nakajima K, Bondet V, Åkesson S, Khobrekar NV, Bodansky A, Du L, Melander T, Mariaggi AA, Seeleuthner Y, Saleh TS, Chakravarty D, Marits P, Dobbs K, Vonlanthen S, Hennings V, Thörn K, Rinchai D, Bizien L, Chaldebas M, Sobh A, Özçelik T, Keles S, AlKhater SA, Prando C, Meyts I; COVID Human Genetic Effort; Wilson MR, Rosain J, Jouanguy E, Aubart M, Abel L, Mogensen TH, Pan-Hammarström Q, Gao D, Duffy D, Cobat A, Berg S, Notarangelo LD, Harschnitz O, Rice CM, Studer L, Casanova JL, Ekwall O, Zhang SY. Chan YH, et al. J Exp Med. 2024 Sep 2;221(9):e20231725. doi: 10.1084/jem.20231725. Epub 2024 Jul 18. J Exp Med. 2024. PMID: 39023559 Free PMC article.
A sensitive assay for measuring whole-blood responses to type I IFNs.
Gervais A, Le Floc'h C, Le Voyer T, Bizien L, Bohlen J, Celmeli F, Al Qureshah F, Masson C, Rosain J, Chbihi M, Lévy R, Castagnoli R, Rothenbuhler A, Jouanguy E, Zhang Q, Zhang SY, Béziat V, Bustamante J, Puel A, Bastard P, Casanova JL. Gervais A, et al. Proc Natl Acad Sci U S A. 2024 Oct;121(40):e2402983121. doi: 10.1073/pnas.2402983121. Epub 2024 Sep 23. Proc Natl Acad Sci U S A. 2024. PMID: 39312669 Free PMC article.
Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients.
Gervais A, Marchal A, Fortova A, Berankova M, Krbkova L, Pychova M, Salat J, Zhao S, Kerrouche N, Le Voyer T, Stiasny K, Raffl S, Schieber Pachart A, Fafi-Kremer S, Gravier S, Robbiani DF, Abel L, MacDonald MR, Rice CM, Weissmann G, Kamal Eldin T, Robatscher E, Erne EM, Pagani E, Borghesi A, Puel A, Bastard P, Velay A, Martinot M, Hansmann Y, Aberle JH, Ruzek D, Cobat A, Zhang SY, Casanova JL. Gervais A, et al. J Exp Med. 2024 Oct 7;221(10):e20240637. doi: 10.1084/jem.20240637. Epub 2024 Sep 24. J Exp Med. 2024. PMID: 39316018 Free PMC article.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sancho-Shim… See abstract for full author list ➔ Bellos E, et al. J Exp Med. 2024 Dec 2;221(12):e20240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310 Free PMC article.
Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease.
Gervais A, Bastard P, Bizien L, Delifer C, Tiberghien P, Rodrigo C, Trespidi F, Angelini M, Rossini G, Lazzarotto T, Conti F, Cassaniti I, Baldanti F, Rovida F, Ferrari A, Mileto D, Mancon A, Abel L, Puel A, Cobat A, Rice CM, Cadar D, Schmidt-Chanasit J, Scheid JF, Lemieux JE, Rosenberg ES, Agudelo M, Tangye SG, Borghesi A, Durand GA, Duburcq-Gury E, Valencia BM, Lloyd AR, Nagy A, MacDonald MM, Simonin Y, Zhang SY, Casanova JL. Gervais A, et al. J Exp Med. 2024 Dec 2;221(12):e20240942. doi: 10.1084/jem.20240942. Epub 2024 Nov 1. J Exp Med. 2024. PMID: 39485284 Free PMC article.
Unraveling the Immune Signature of Herpes Zoster: Insights Into the Pathophysiology and Human Leukocyte Antigen Risk Profile.
Vandoren R, Boeren M, Schippers J, Bartholomeus E, Mullan K, Michels N, Aerts O, Leysen J, Bervoets A, Lambert J, Leuridan E, Wens J, Peeters K, Emonds MP, Jansens H, Casanova JL, Bastard P, Suls A, Van Tendeloo V, Ponsaerts P, Delputte P, Ogunjimi B, Laukens K, Meysman P. Vandoren R, et al. J Infect Dis. 2024 Sep 23;230(3):706-715. doi: 10.1093/infdis/jiad609. J Infect Dis. 2024. PMID: 38195164
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F, Le Pen J, de Weerd NA, Moncada-Velez M, Materna M, Lin DC, Milisavljevic B, Vianna F, Bizien L, Lorenzo L, Lecuit M, Pommier JD, Keles S, Ozcelik T, Pedraza-Sanchez S, de Prost N, El Zein L, Hammoud H, Ng LFP, Halwani R, Saheb Sharif-Askari N, Lau YL, Tam AR, Singh N, Bhattad S, Berkun Y, Chantratita W, Aguilar-López R, Shahrooei M; COVID-19 HGE Consortium; SEAe Consortium; Abel L, Bastard P, Jouanguy E, Béziat V, Zhang P, Rice CM, Cobat A, Zhang SY, Hertzog PJ, Casanova JL, Zhang Q. Al Qureshah F, et al. J Exp Med. 2025 Feb 3;222(2):e20241413. doi: 10.1084/jem.20241413. Epub 2024 Dec 16. J Exp Med. 2025. PMID: 39680367 Free PMC article.