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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-&gt;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-&gt;A sequence variant may associate with severe X-HIGM phenotype.

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