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Träfflista för sökning "WFRF:(Bodansky D) srt2:(2024)"

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1.	Chan, Yi-Hao, et al. (author) SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency. 2024 In: The Journal of experimental medicine. - 1540-9538. ; 221:9 Journal article (peer-reviewed)abstract Inherited deficiency of the RNA lariat-debranching enzyme 1 (DBR1) is a rare etiology of brainstem viral encephalitis. The cellular basis of disease and the range of viral predisposition are unclear. We report inherited DBR1 deficiency in a 14-year-old boy who suffered from isolated SARS-CoV-2 brainstem encephalitis. The patient is homozygous for a previously reported hypomorphic and pathogenic DBR1 variant (I120T). Consistently, DBR1 I120T/I120T fibroblasts from affected individuals from this and another unrelated kindred have similarly low levels of DBR1 protein and high levels of RNA lariats. DBR1 I120T/I120T human pluripotent stem cell (hPSC)-derived hindbrain neurons are highly susceptible to SARS-CoV-2 infection. Exogenous WT DBR1 expression in DBR1 I120T/I120T fibroblasts and hindbrain neurons rescued the RNA lariat accumulation phenotype. Moreover, expression of exogenous RNA lariats, mimicking DBR1 deficiency, increased the susceptibility of WT hindbrain neurons to SARS-CoV-2 infection. Inborn errors of DBR1 impair hindbrain neuron-intrinsic antiviral immunity, predisposing to viral infections of the brainstem, including that by SARS-CoV-2.
2.	Peel, JN, et al. (author) Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB115:02 or 16:02 individuals 2024 In:* The Journal of clinical investigation. - 1558-8238. ; 134:8 Journal article (peer-reviewed)

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Casanova, JL (1); Martin, F. (1); Yang, R. (1); Du, Likun (1); Cobat, Aurelie (1); Zhang, Shen-Ying (1); show more...; Casanova, Jean-Laure ... (1); Pan-Hammarström, Qia ... (1); Landegren, N (1); Bastard, P (1); Marits, Per (1); Lee, D. (1); Duffy, Darragh (1); Hennings, Viktoria (1); Ekwall, Olov, 1968 (1); Cederholm, A. (1); Abel, L (1); Jouanguy, E (1); Puel, A (1); Gervais, A (1); Seeleuthner, Y (1); Ogishi, M (1); Le Voyer, T (1); Rosain, J (1); Bustamante, J (1); Boisson-Dupuis, S (1); Studer, Lorenz (1); Tiberghien, P (1); Bizien, L (1); Migaud, M (1); Sallette, J (1); Anderson, MS (1); Soudee, C (1); Rosain, Jérémie (1); Bizien, Lucy (1); Notarangelo, Luigi D (1); Abel, Laurent (1); Jouanguy, Emmanuelle (1); Berg, Stefan (1); Rice, Charles M. (1); Perez, L (1); Chan, Yi-Hao (1); Harschnitz, Oliver (1); Nakajima, Koji (1); Rinchai, Darawan (1); Dobbs, Kerry (1); Lee, Danyel (1); Seeleuthner, Yoann (1); Chaldebas, Matthieu (1); Mogensen, Trine H. (1); show less...

University: University of Gothenburg (1); Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

Year: 2024 (2)Undo refine

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