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• W2081255498 abstract "Cytotoxic T lymphocyte antigen-4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 in humans are unknown. We identified germline heterozygous mutations in CTLA4 in subjects with severe immune dysregulation from four unrelated families. Whereas Ctla4 heterozygous mice have no obvious phenotype, human CTLA4 haploinsufficiency caused dysregulation of FoxP3(+) regulatory T (Treg) cells, hyperactivation of effector T cells, and lymphocytic infiltration of target organs. Patients also exhibited progressive loss of circulating B cells, associated with an increase of predominantly autoreactive CD21(lo) B cells and accumulation of B cells in nonlymphoid organs. Inherited human CTLA4 haploinsufficiency demonstrates a critical quantitative role for CTLA-4 in governing T and B lymphocyte homeostasis." @default.
• W2081255498 created "2016-06-24" @default.
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• W2081255498 date "2014-09-26" @default.
• W2081255498 modified "2023-10-14" @default.
• W2081255498 title "Immune dysregulation in human subjects with heterozygous germline mutations in <i>CTLA4</i>" @default.
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• W2081255498 doi "https://doi.org/10.1126/science.1255904" @default.
• W2081255498 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4371526" @default.
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