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Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?

Heterozygous mutations in CTLA4 lead to an inborn error of immunity characterized by immune dysregulation and immunodeficiency, known as CTLA-4 insufficiency. Cohort studies on CTLA4 mutation carriers showed a reduced penetrance (around 70%) and variable disease expressivity, suggesting the presence...

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Main Authors: Krausz, Máté (Author) , Mitsuiki, Noriko (Author) , Falcone, Valeria (Author) , Komp, Johanna (Author) , Posadas-Cantera, Sara (Author) , Lorenz, Hanns-Martin (Author) , Litzman, Jiri (Author) , Wolff, Daniel (Author) , Kanariou, Maria (Author) , Heinkele, Anita (Author) , Speckmann, Carsten (Author) , Häcker, Georg (Author) , Hengel, Hartmut (Author) , Gámez, Laura (Author) , Grimbacher, Bodo (Author)
Format: Article (Journal)
Language:English
Published: 02 November 2022
In: Frontiers in immunology
Year: 2022, Volume: 13, Pages: 1-10
ISSN:1664-3224
DOI:10.3389/fimmu.2022.1011646
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3389/fimmu.2022.1011646
Verlag, Volltext: https://www.frontiersin.org/articles/10.3389/fimmu.2022.1011646
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Author Notes:Máté Krausz, Noriko Mitsuiki, Valeria Falcone, Johanna Komp, Sara Posadas-Cantera, Hanns-Martin Lorenz, Jiri Litzman, Daniel Wolff, Maria Kanariou, Anita Heinkele, Carsten Speckmann, Georg Häcker, Hartmut Hengel, Laura Gámez-Díaz and Bodo Grimbacher
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Summary:Heterozygous mutations in CTLA4 lead to an inborn error of immunity characterized by immune dysregulation and immunodeficiency, known as CTLA-4 insufficiency. Cohort studies on CTLA4 mutation carriers showed a reduced penetrance (around 70%) and variable disease expressivity, suggesting the presence of modifying factors. It is well studied that infections can trigger autoimmunity in humans, especially in combination with a genetic predisposition.
Item Description:Gesehen am 26.01.2023
Physical Description:Online Resource
ISSN:1664-3224
DOI:10.3389/fimmu.2022.1011646

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