Disseminated cytomegalovirus infection as initial manifestation of hyper-IgM syndrome in a 15-month-old boy

We report on the clinical, laboratory, and molecular genetic findings in a 15-month-old boy who initially presented with disseminated cytomegalovirus and concomitant para-influenza virus infection. Hyper-IgM syndrome, suspect ed on clinical grounds, was confirmed by immunological investigations. In a ddition, a previously unreported potentially disease-causing mutation in th e CD40 ligand gene was detected in this patient. Conclusion The present case illustrates that disseminated cytomegalovirus i nfection with atypical clinical features should be included in the spectrum of the hyper-IgM syndrome.