Disseminated cytomegalovirus infection as initial manifestation of hyper-IgM syndrome in a 15-month-old boy
Disseminated cytomegalovirus infection as initial manifestation of hyper-IgM syndrome in a 15-month-old boy
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DOI：
10.1007/s004310051306
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发表时间：
2000-06-01
影响因子：
3.6
通讯作者：
Zach, MS
中科院分区：
文献类型：
--
作者：
Benesch, M;Pfleger, A;Zach, MS
我们报告了一个15个月大的男孩的临床、实验室和分子遗传学的发现，他最初表现为弥散性巨细胞病毒和伴随的副流感病毒感染。高igm综合征，疑似临床依据，经免疫学调查证实。此外，在该患者中检测到以前未报道的CD40配体基因的潜在致病突变。结论弥散性巨细胞病毒感染具有不典型的临床特征，应纳入高igm综合征的谱系。
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.Conclusion The present case illustrates that disseminated cytomegalovirus infection with atypical clinical features should be included in the spectrum of the hyper-IgM syndrome.