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Article

X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.

BMC pediatrics - 28 Nov 2003

Pienaar Sandra, Eley Brian S, Hughes Jane, Henderson Howard E

Abstract excerpt

BACKGROUND: The objective of this study was to describe the clinical and molecular features of the first South African family with X-linked hyper-IgM syndrome (HIGM1). METHODS: Diagnoses were based on immunoglobulin results and the absence of CD40 ligand (CD40L) expression on activated T-cells. Complete molecular characterisation involved CD40L cDNA sequencing, and genomic DNA analysis by polymerase chain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 14641931
DOI: 10.1186/1471-2431-3-12
PMCID: PMC317313

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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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