The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency

The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency

IntroductionHuman 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 modifi...

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Main Authors: Sara Posadas-Cantera, Noriko Mitsuiki, Florian Emmerich, Virginia Patiño, Hanns-Martin Lorenz, Olaf Neth, Ingunn Dybedal, Kjetil Taskén, Alejandro A. Schäffer, Bodo Grimbacher, Laura Gámez-Díaz
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Immunology
Subjects:
cytotoxic T-lymphocyte antigen 4 (CTLA-4)
immune dysregulation
inborn errors of immunity (IEI)
disease modifiers
human leukocyte antigen (HLA)
genetic linkage analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1447995/full
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