Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males

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Abstract

All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c. 654C→A transversion of the CD40L gene that predicts premature termination of CD40L synthesis. This report points to the importance of early carrier detection and genetic counseling in families with X-linked primary immunodeficiency diseases. We propose that the c.654C→A sequence variant may associate with severe X-HIGM phenotype.

Original languageEnglish
Pages (from-to)281-282
Number of pages2
JournalHaematologica
Volume92
Issue number2
DOIs
Publication statusPublished - Feb 2007

Keywords

  • CD40 ligand
  • Hyper-Igm syndrome
  • Mutational analysis

ASJC Scopus subject areas

  • Hematology

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