title: X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: the first case with molecular diagnosis in Korea.
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.
authors.affiliation: Department of Microbiology, College of Medicine, Chungnam National University, 6 Munhwa-dong, Jung-ku, Taejon 301-131, Korea. hayoungj@cnu.ac.kr
authors.forename: Eun Kyeong
authors.initials: EK
authors.lastname: Jo
authors.forename: Hyung Seok
authors.initials: HS
authors.lastname: Kim
authors.forename: Min Young
authors.initials: MY
authors.lastname: Lee
authors.forename: Motohiro
authors.initials: M
authors.lastname: Iseki
authors.forename: Jae Ho
authors.initials: JH
authors.lastname: Lee
authors.forename: Chang Hwa
authors.initials: CH
authors.lastname: Song
authors.forename: Jeong Kyu
authors.initials: JK
authors.lastname: Park
authors.forename: Tai Ju
authors.initials: TJ
authors.lastname: Hwang
authors.forename: Hoon
authors.initials: H
authors.lastname: Kook
mesh_terms: 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
chemical_list: D007075:Immunoglobulin M; D023201:CD40 Ligand