X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea
Journal of Korean Medical Science
;
: 116-120, 2002.
Article
in English
| WPRIM
| ID: wpr-87468
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
X Chromosome
/
Immunoglobulin M
/
Cryptosporidium parvum
/
Cryptococcosis
/
Cryptococcus neoformans
/
Cryptosporidiosis
/
CD40 Ligand
/
Heterozygote
/
Hypergammaglobulinemia
Type of study:
Diagnostic study
Limits:
Animals
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2002
Type:
Article
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