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Article

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome.

Molecular immunology - 1 Jan 2008

Erdos Melinda, Lakos Gabriella, Dérfalvi Beáta, Notarangelo Luigi D, Durandy Anne, Maródi László

Abstract excerpt

We have identified 9 disease-causing mutations in 18 hyper-immunoglobulin M (HIGM) syndrome patients from ten unrelated Hungarian families. CD40L mutation resulted in X-linked combined immunodeficiency in 11 patients (6 families) and AICDA mutation caused autosomal recessive HIGM characterized by B cell immunodeficiency in 5 patients (3 families). Two brothers with a genetically undefined form of HIGM and...

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Source

Identifiers

PMID: 17553565
DOI: 10.1016/j.molimm.2007.04.014

Genes

AICDA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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