Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

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Article

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

Blood - 1 Oct 1998

Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst H F, Aruffo A, Ochs H D

Abstract excerpt

X-linked hyper IgM syndrome (XHIM) is a primary immunodeficiency disorder caused by mutations of the gene encoding CD40 ligand (CD40L). We correlated mutations of the CD40L gene, CD40L expression, and the clinical manifestations observed in XHIM patients from 30 families. The 28 unique mutations...

Topics

Adolescent
Adult
Animals
Antibodies, Viral
Bacteriophage phi X 174
CD4-Positive T-Lymphocytes
CD40 Antigens
CD40 Ligand
COS Cells
Child
Child, Preschool
DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Disease Susceptibility

Genotype

Humans

Hypergammaglobulinemia

Immunoglobulin M

Immunologic Deficiency Syndromes

Source

Open in PubMed

Identifiers

PMID: 9746782

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9746782-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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