Haematologica, Vol 92, Issue 2, 281-282 doi:10.3324/haematol.10172
Copyright © 2007 by Ferrata Storti Foundation
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Immunodeficiency

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

Melinda Erdos, Krisztina Alapi, László Maródi

Department of Infectious and Pediatric Immunology, Medical and Health Science Centre, University of Debrecen, Debrecen, Hungary

Correspondence: László Maródi, MD, PhD, Department of Infectious and Pediatric Immunology, University of Debrecen Medical and Health Science Centre, Nagyerdei Krt. 98, H-4032 Debrecen, Hungary. Phone: international +36.52.416841. Fax: international +36.52.430323. E-mail: lmarodi{at}jaguar.dote.hu

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.

Key words: hyper-IgM syndrome, CD40 ligand, mutational analysis.