Article
The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.
Frontiers in immunology - 1 Jan 2024
Posadas-Cantera Sara, Mitsuiki Noriko, Emmerich Florian, Patiño Virginia, Lorenz Hanns-Martin, Neth Olaf, Dybedal Ingunn, Taskén Kjetil, Schäffer Alejandro A, Grimbacher Bodo, Gámez-Díaz Laura
Abstract excerpt
Introduction: Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in CTLA4 is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. Various genetic and non-genetic potential triggers have been...
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