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

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

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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 clinical manifestations of B cell deficiency were also included in this study. B cells from these two patients had defective CSR and skewed pattern of somatic hypermutation. Altogether, a novel CD40L truncation mutation (c.470delA) and a new missense AICDA mutation (p.E58K) were identified. Carrier status was defined in 13 clinically healthy individuals allowing prenatal genetic testing that was performed in two affected families. This is the first comprehensive overview of molecular genetic features of Hungarian patients with HIGM syndrome.

Original languageEnglish
Pages (from-to)278-282
Number of pages5
JournalMolecular Immunology
Volume45
Issue number1
DOIs
Publication statusPublished - Jan 1 2008

Keywords

  • AID
  • CD40L
  • Hyper-IgM syndrome

ASJC Scopus subject areas

  • Immunology
  • Molecular Biology

Fingerprint Dive into the research topics of 'Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome'. Together they form a unique fingerprint.

  • Cite this