J Korean Med Sci.  2002 Feb;17(1):116-120. 10.3346/jkms.2002.17.1.116.

X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea

• Jo EK
• Kim HS
• Lee MY
• Iseki M
• Lee JH
• Song CH
• Park JK
• Hwang TJ
• Kook H

• KMID: 2157605
• DOI: http://doi.org/10.3346/jkms.2002.17.1.116

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

CD40 Ligand; Mutation; Immunoglobulin M; Flow Cytometry; Cryptosporidium parvum; Cryptococcus neoformans

MeSH Terms

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