X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: the first case with molecular diagnosis in Korea.
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.
Jo
Eun Kyeong
EK
Department of Microbiology, College of Medicine, Chungnam National University, 6 Munhwa-dong, Jung-ku, Taejon 301-131, Korea. hayoungj@cnu.ac.kr
Kim
Hyung Seok
HS
Lee
Min Young
MY
Iseki
Motohiro
M
Lee
Jae Ho
JH
Song
Chang Hwa
CH
Park
Jeong Kyu
JK
Hwang
Tai Ju
TJ
Kook
Hoon
H
D000818:Animals; D023201:CD40 Ligand / Q000235:genetics*; D002675:Child, Preschool; D003453:Cryptococcosis / Q000150:complications* / Q000235:genetics / Q000276:immunology; D003455:Cryptococcus neoformans; D003457:Cryptosporidiosis / Q000150:complications* / Q000235:genetics / Q000276:immunology; D016785:Cryptosporidium parvum; D005260:Female; D006579:Heterozygote; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D007075:Immunoglobulin M / Q000097:blood*; D007723:Korea; D008297:Male; D010375:Pedigree; D014960:X Chromosome
D007075:Immunoglobulin M; D023201:CD40 Ligand