|
KMID : 0191120020170010116
|
|
Journal of Korean Medical Science
2002 Volume.17 No. 1 p.116 ~ p.120
|
|
|
X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea
|
|
Eun Kyeong Jo/Eun Kyeong Jo
Hyung Seok Kim/Min Young Lee/Motohiro Iseki/Jae Ho Lee/Chang Hwa Song/Jeong Kyu Park/Tai Ju Hwang/Hoon Kook
|
|
|
Abstract
|
|
|
|
X-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.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
 
|
|
|
Listed journal information
|
|
    
|