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Article

X-linked hyper-immunoglobulin M syndrome harboring a novel CD40-ligand gene mutation: a case report.

Immunogenetics - 1 Apr 2023

Ramachandran Rahul, Krishnan Yamini, Singh Parminder, Kumar Ashok, Mohanty Abhishek

Abstract excerpt

The X-linked hyper-IgM syndrome (X-HIGM1) is a rare primary immunodeficiency disorder (PID) caused by mutations in the gene encoding the CD154 protein, also known as CD40 ligand (CD40LG). X-HIGM1 is characterized by normal or elevated serum levels of IgM in association with decreased levels of IgG, IgA, and IgE. The CD40LG protein expressed on activated T cells interacts with its receptor protein, CD40, on B...

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Source

Identifiers

PMID: 36478253
DOI: 10.1007/s00251-022-01289-y

Genes

CD40
CD40LG

Variants

Provenance

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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