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Article

Phenotypic heterogeneity in a family with a CD40 ligand intracellular domain mutation.

Journal of clinical immunology - 1 Feb 2012

Kiani-Alikhan S, Yong P F K, Gilmour K C, Grosse-Kreul D, Davies E G, Ibrahim M A A

Abstract excerpt

We describe a family with the rare mutation R11X that leads to a truncated CD40 ligand (CD40L) missing the intracellular domain. The index case had detectable CD40L expression and presented at the age of 41 years with cerebral toxoplasmosis. A brother and two nephews were also identified as having the same mutation but exhibited milder and variable phenotypes. The older affected nephew had a moderately depressed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22009004
DOI: 10.1007/s10875-011-9607-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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