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, suspected on clinical grounds, was confirmed by immunological investigations. In addition, a previously unreported potentially disease-causing mutation in the CD40 ligand gene was detected in this patient.


CONCLUSIONS
The present case illustrates that disseminated cytomegalovirus infection with atypical clinical features should be included in the spectrum of the hyper-IgM syndrome.
Benesch
M
M
Klinische Abteilung für Pädiatrische Pulmonologie und Allergologie, Universitätsklinik für Kinder- und Jugendheilkunde, Graz, Austria.
Pfleger
A
A
Eber
E
E
Orth
U
U
Zach
M S
MS
D003586:Cytomegalovirus Infections / Q000209:etiology*; D006801:Humans; D007075:Immunoglobulin M / Q000097:blood*; D007153:Immunologic Deficiency Syndromes / Q000097:blood / Q000150:complications*; D007223:Infant; D008297:Male
D007075:Immunoglobulin M