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

Krausz, Máté ; Mitsuiki, Noriko ; Falcone, Valeria ; Komp, Johanna ; Posadas-Cantera, Sara ; Lorenz, Hanns-Martin ; Litzman, Jiri ; Wolff, Daniel ; Kanariou, Maria ; Heinkele, Anita ; Speckmann, Carsten ; Häcker, Georg ; Hengel, Hartmut ; Gámez-Díaz, Laura ; Grimbacher, Bodo



Abstract

PurposeHeterozygous 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 ...

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