X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea.
10.3346/jkms.2002.17.1.116
- Author:
Eun Kyeong JO
1
;
Hyung Seok KIM
;
Min Young LEE
;
Motohiro ISEKI
;
Jae Ho LEE
;
Chang Hwa SONG
;
Jeong Kyu PARK
;
Tai Ju HWANG
;
Hoon KOOK
Author Information
1. Department of Microbiology, College of Medicine, Chungnam National University, Taejon, Korea. hayoungj@cnu.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
CD40 Ligand;
Mutation;
Immunoglobulin M;
Flow Cytometry;
Cryptosporidium parvum;
Cryptococcus neoformans
- MeSH:
Animals;
CD40 Ligand/*genetics;
Child, Preschool;
Cryptococcosis/*complications/genetics/immunology;
Cryptococcus neoformans;
Cryptosporidiosis/*complications/genetics/immunology;
*Cryptosporidium parvum;
Female;
*Heterozygote;
Humans;
Hypergammaglobulinemia/complications/*diagnosis/genetics/immunology;
Immunoglobulin M/*blood;
Korea;
Male;
Pedigree;
*X Chromosome
- From:Journal of Korean Medical Science
2002;17(1):116-120
- CountryRepublic of Korea
- Language:English
-
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.
