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Article

CD154 variant lacking tumor necrosis factor homologous domain inhibits cell surface expression of wild-type protein.

The Journal of biological chemistry - 19 Jan 2001

Su L, Garber E A, Hsu Y M

Abstract excerpt

X-linked hyper-IgM (XHIM) syndrome is an immunological disorder resulting from mutations in the CD154 gene. Some mutations occur in splicing sites and result in transcripts encoding wild-type and mutant proteins. These mutants lack the tumor necrosis factor homologous (TNFH) domain and consequently fail to trimerize. Given that the TNFH domain is responsible for trimerization, one may predict that the TNFH mutant...

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PMID: 11073939
DOI: 10.1074/jbc.C000674200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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