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DECTIN-1: A modifier protein in CTLA-4 haploinsufficiency

6 Dec 2023

Abstract excerpt

Autosomal dominant loss-of-function (LoF) variants in cytotoxic T-lymphocyte associated protein 4 ( CTLA4 ) cause immune dysregulation with autoimmunity, immunodeficiency and lymphoproliferation (IDAIL). Incomplete penetrance and variable expressivity are characteristic of IDAIL caused by CTLA-4 haploinsufficiency (CTLA-4h), pointing to a role for genetic modifiers. Here, we describe an IDAIL proband carrying a...

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PMID: 38055819
DOI: 10.1126/sciadv.adi9566

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