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Article

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

American journal of human genetics - 1 Apr 1995

Macchi P, Villa A, Strina D, Sacco M G, Morali F, Brugnoni D, Giliani S, Mantuano E, Fasth A, Andersson B

Abstract excerpt

X-linked immunodeficiency with hyper-IgM (HIGMX-1) is a rare disorder caused by defective expression of the CD40 ligand (CD40L) by activated T lymphocytes, resulting in inefficient T-B cell cooperation and failure of B cells to undergo immunoglobulin isotype switch. In the present work, we descri...

Topics

Base Sequence
CD40 Ligand
Genetic Linkage
Humans
Hypergammaglobulinemia
Immunoglobulin M
Immunophenotyping
Membrane Glycoproteins
Molecular Sequence Data
Mutation
Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

X Chromosome

Source

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Identifiers

PMID: 7717401
PMCID: PMC1801196

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7717401-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.PMID 7717401Read ↗

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