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UNC13D c.2588G>A Nucleotide Variant Impairs NK-Cell Cytotoxicity in Adult-Onset EBV-Associated Hemophagocytic Lymphohistiocytosis: A Pedigree Study

5 Sept 2025

Abstract excerpt

UNC13D, which encodes the Munc13–4 protein, is a critical gene implicated in type 3 familial hemophagocytic lymphohistiocytosis (HLH). While biallelic nucleotide variants in HLH-related genes, including UNC13D, are traditionally linked to recessive inheritance patterns in HLH, emerging evidence suggests that heterozygous variants may also contribute to the onset of adult-onset HLH. However, the pathogenicity of...

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PMID: 40943599
DOI: 10.3390/ijms26178683

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