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Year Number of Results
2017 1
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2021 4
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2025 1

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32 results

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Page 1
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.
David C, Arango-Franco CA, Badonyi M, Fouchet J, Rice GI, Didry-Barca B, Maisonneuve L, Seabra L, Kechiche R, Masson C, Cobat A, Abel L, Talouarn E, Béziat V, Deswarte C, Livingstone K, Paul C, Malik G, Ross A, Adam J, Walsh J, Kumar S, Bonnet D, Bodemer C, Bader-Meunier B, Marsh JA, Casanova JL, Crow YJ, Manoury B, Frémond ML, Bohlen J, Lepelley A. David C, et al. J Exp Med. 2024 Aug 5;221(8):e20232066. doi: 10.1084/jem.20232066. Epub 2024 Jun 13. J Exp Med. 2024. PMID: 38869500 Free PMC article.
Zonation and ligand and dose dependence of sphingosine 1-phosphate receptor-1 signalling in blood and lymphatic vasculature.
Del Gaudio I, Nitzsche A, Boyé K, Bonnin P, Poulet M, Nguyen TQ, Couty L, Ha HTT, Nguyen DT, Cazenave-Gassiot A, Ben Alaya K, Thérond P, Chun J, Wenk MR, Proia RL, Henrion D, Nguyen LN, Eichmann A, Camerer E. Del Gaudio I, et al. Cardiovasc Res. 2024 Nov 25;120(14):1794-1810. doi: 10.1093/cvr/cvae168. Cardiovasc Res. 2024. PMID: 39086170
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.
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
Tomomasa D, Lee BH, Hirata Y, Inoue Y, Majima H, Imanaka Y, Asano T, Katakami T, Lee J, Hijikata A, Worakitchanon W, Yang X, Wang X, Watanabe A, Kamei K, Kageyama Y, Seo GH, Fujimoto A, Casanova JL, Puel A, Morio T, Okada S, Kanegane H. Tomomasa D, et al. J Clin Immunol. 2024 May 17;44(5):121. doi: 10.1007/s10875-024-01724-7. J Clin Immunol. 2024. PMID: 38758287
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, Berteloot L, Parent AV, Pescatore A, Spinosa E, Minic S, Kiszewski AE, Tsumura M, Thibault C, Esnaola Azcoiti M, Martinovic J, Philippot Q, Khan T, Marchal A, Charmeteau-De Muylder B, Bizien L, Deswarte C, Hadjem L, Fauvarque MO, Dorgham K, Eriksson D, Falcone EL, Puel M, Ünal S, Geraldo A, Le Floc'h C, Li H, Rheault S, Muti C, Bobrie-Moyrand C, Welfringer-Morin A, Fuleihan RL, Lévy R, Roelens M, Gao L, Materna M, Pellegrini S, Piemonti L, Catherinot E, Goffard JC, Fekkar A, Sacko-Sow A, Soudée C, Boucherit S, Neehus AL, Has C, Hübner S, Blanchard-Rohner G, Amador-Borrero B, Utsumi T, Taniguchi M, Tani H, Izawa K, Yasumi T, Kanai S, Migaud M, Aubart M, Lambert N, Gorochov G, Picard C, Soudais C, L'Honneur AS, Rozenberg F, Milner JD, Zhang SY, Vabres P, Trpinac D, Marr N, Boddaert N, Desguerre I, Pasparakis M, Miller CN, Poziomczyk CS, Abel L, Okada S, Jouanguy E, Cheynier R, Zhang Q, Cobat A, Béziat V, Boisson B, Steffann J, Fusco F, Ursini MV, Hadj-Rabia S, Bodemer C, Bustamante J, Luche H, Puel A, Courtois G, Bastard P, Landegren N, Anderson MS, Casanova JL. Rosain J, et al. J Exp Med. 2024 Nov 4;221(11):e20231152. doi: 10.1084/jem.20231152. Epub 2024 Oct 1. J Exp Med. 2024. PMID: 39352576 Free PMC article.
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.
Human autoantibodies underlying infectious diseases.
Puel A, Bastard P, Bustamante J, Casanova JL. Puel A, et al. J Exp Med. 2022 Apr 4;219(4):e20211387. doi: 10.1084/jem.20211387. Epub 2022 Mar 23. J Exp Med. 2022. PMID: 35319722 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.
32 results