Study
Immune Dysregulation in Human Subjects with Heterozygous Germline Mutations in
Study ID | Alternative Stable ID | Type |
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phs000797 | Case Set |
Study Description
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.
Archive | Link Archive Accession |
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dbGaP | phs000797 |
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