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: | , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
02 November 2022
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| 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 |
| 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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| 520 | |a 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. | ||
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