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Article

Mutations of CD40 ligand in two patients with hyper-IgM syndrome.

Immunobiology - 1 Jan 2003

García-Pérez Miguel A, Paz-Artal Estela, Corell Alfredo, Moreno Angel, López-Goyanes Alberto, García-Martín Francisco, Vázquez Rosario, Pacho Aranzazu, Romo Eva, Allende Luis M

Abstract excerpt

Two patients with the X-linked form of the hyper-IgM syndrome have been studied. Both patients present: 1. Mutations in the CD40L gene (a nonsense point mutation that introduces a termination codon at the extracellular domain of the protein, and a deletion that eliminates exon 4 as consequence of an abnormal splicing). 2. Lack of CD40L expression on the lymphocyte surface after stimulation with ionomycin and PMA....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12952351
DOI: 10.1078/0171-2985-00241

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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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