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Article

X-linked hyper IgM syndrome: a novel sequence variant associated with an atypical mild phenotype.

Journal of pediatric hematology/oncology - 1 Jul 2012

Buchbinder David, Park Sang, Nugent Diane

Abstract excerpt

X-linked hyper IgM syndrome is associated with abnormalities in the gene encoding CD40 ligand (CD40LG). A typical phenotype evolves during infancy in affected males. This phenotype includes neutropenia, dysgammaglobulinemia, bacterial sinopulmonary infections, and opportunistic infections. In the absence of the typical phenotypic features, clinicians must maintain a high level of suspicion for X-linked hyper IgM...

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Identifiers

PMID: 22322937
DOI: 10.1097/MPH.0b013e318241fa1b

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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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