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Article

Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder

20 Sept 2020

Abstract excerpt

BACKGROUNDCytotoxic T lymphocyte antigen 4 (CTLA4) is essential for immune homeostasis. Genetic mutations causing haploinsufficiency (CTLA4h) lead to a phenotypically heterogenous, immune-mediated disease that can include neuroinflammation. The neurological manifestations of CTLA4h are poorly characterized.METHODSWe performed an observational natural history study of 50 patients with CTLA4h who were followed at...

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PMID: 32955488
DOI: 10.1172/jci135947

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