CTLA4 haploinsufficiency and immune dysregulation
Ontology highlight
ABSTRACT: We identified germline heterozygous mutations in CTLA4 in members of four families with severe immune dysregulation. Human CTLA4 haploinsufficiency caused dysregulation of FoxP3+ regulatory T (Treg) cells and lymphocytic infiltration of target organs, mimicking Ctla4 homozygous mice. Patients also exhibited a B cell phenotype, with progressive loss of B cells and accumulation of autoreactive CD21lo B cells. This study demonstrates a critical quantitative role for CTLA-4 in human immune homeostasis.
SECONDARY ACCESSION(S): PRJNA260328PRJNA260329
REPOSITORIES: dbGaP
Dataset's files
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| GapExchange_phs000797.v1.p1.xml | Xml | |||
| dbGaPEx2.1.5.xsd | Other | |||
| Study_Report.phs000797.CTLA4.v1.p1.MULTI.pdf | ||||
| manifest_phs000797.CTLA4.v1.p1.c1.DS-ADO-IRB-PUB.pdf | ||||
| datadict_v2.xsl | Other |
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