Linked Life Data

11850600

Source:http://linkedlifedata.com/resource/pubmed/id/11850600

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pubmed-article:11850600pubmed:abstractTextX-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding CD40 ligand (CD40L; CD154). We report the clinical manifestations and mutational analysis of the CD40L gene observed in a male patient from a XHIM family. Having hypogammaglobulinemia and elevated IgM, the 3-yr-old boy exhibited the characteristic clinical features of XHIM. The patient suffered from frequent respiratory infections, and chronic enteritis caused by Cryptosporidium parvum. In addition, a lymph node biopsy and a culture from this sample revealed C. neoformans infection. Activated lymphocytes from the patient failed to express CD40L on their surface as assessed by flow cytometry and a missence mutation (W140R) was found at the XHIM hotspot in his CD40L cDNA to confirm the diagnosis. Genetic analysis of the mother and sister showed a heterozygote pattern, indicating carrier status. To our knowledge, this is the first report on the molecular diagnosis of an XHIM patient in Korea.lld:pubmed
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pubmed-article:11850600pubmed:authorpubmed-author:KimHyung...lld:pubmed
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pubmed-article:11850600pubmed:dateRevised2011-3-16lld:pubmed
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pubmed-article:11850600pubmed:articleTitleX-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: the first case with molecular diagnosis in Korea.lld:pubmed
pubmed-article:11850600pubmed:affiliationDepartment of Microbiology, College of Medicine, Chungnam National University, 6 Munhwa-dong, Jung-ku, Taejon 301-131, Korea. hayoungj@cnu.ac.krlld:pubmed
pubmed-article:11850600pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:11850600pubmed:publicationTypeCase Reportslld:pubmed
pubmed-article:11850600pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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