1.X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea.
Eun Kyeong JO ; Hyung Seok KIM ; Min Young LEE ; Motohiro ISEKI ; Jae Ho LEE ; Chang Hwa SONG ; Jeong Kyu PARK ; Tai Ju HWANG ; Hoon KOOK
Journal of Korean Medical Science 2002;17(1):116-120
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.
Animals
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CD40 Ligand/*genetics
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Child, Preschool
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Cryptococcosis/*complications/genetics/immunology
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Cryptococcus neoformans
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Cryptosporidiosis/*complications/genetics/immunology
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*Cryptosporidium parvum
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Female
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*Heterozygote
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Humans
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Hypergammaglobulinemia/complications/*diagnosis/genetics/immunology
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Immunoglobulin M/*blood
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Korea
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Male
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Pedigree
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*X Chromosome
2.Specific bovine antibody response against a new recombinant Cryptosporidium parvum antigen containing 4 zinc-finger motifs.
Dirk C DE GRAAF ; Hans DE CONINCK ; Franz PETRY ; Ilka B EECKHOUT ; Johan E PEETERS
The Korean Journal of Parasitology 2002;40(1):59-64
A Cryptosporidium parvum sporozoite and oocyst lambda gt11 cDNA library was screened with a hyperimmune rabbit serum that was developed against insoluble fragments of ultrasonicated oocysts. A clone named Cp22.4.1 encoding a protein of 231 amino acids with 4 zinc-finger domains characterized by a Cys-X2-Cys-X4-His-X4-Cys motif was isolated and characterized. There was a complete match between the sequencing data of the coding region of Cp22.4.1 and the corresponding gene at chromosomal level. Cloning in a pBAD-TOPO-TA expression vector permitted to evaluate the antigenicity of the recombinant His-tagged antigen. This antigen was recognized by 2 out of 5 sera from Cryptosporidium immune calves and not by sera from parasite naive animals.
Amino Acid Sequence
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Animals
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Antibodies, Protozoan/*blood
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Antigens, Protozoan/chemistry/*immunology
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Base Sequence
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Cattle/*immunology
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Cryptosporidium parvum/*immunology
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Molecular Sequence Data
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Protozoan Proteins/chemistry/genetics
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Rabbits
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Recombinant Proteins
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Zinc Fingers/genetics/*immunology
3.Genotype and animal infectivity of a human isolate of Cryptosporidium parvum in the Republic of Korea.
Sang Mee GUK ; Tai Soon YONG ; Soon Jung PARK ; Jae Hwan PARK ; Jong Yil CHAI
The Korean Journal of Parasitology 2004;42(2):85-89
Cryptosporidium parvum oocysts were isolated from a child suffering from acute gastroenteritis and successfully passaged in a calf and mice (designated hereafter SNU-H1) in the Republic of Korea; its molecular genotype has been analyzed. The GAG microsatellite region was amplified by a polymerase chain reaction (PCR), with a 238 base pair product, which is commonly displayed in C. parvum. The isolate was shown to be a mixture of the genotypes 1 (anthroponotic) and 2 (zoonotic). To study its infectivity in animals, 2 calves and 3 strains of mice were infected with the SNU-H1; in these animals, the propagation of both genotypes was successful. In immunosuppressed (ImSP) BALB/c and C57BL/6 mice the number of oocysts decreased after day 10 post-infection (PI) ; but in ImSP ICR mice, they remained constant until day 27 PI. The results show that both the C. parvum genotypes 1 and 2 can be propagated in calves and ImSP mice.
Animals
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Cattle
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Child
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Cryptosporidiosis/microbiology
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Cryptosporidium parvum/*genetics/immunology
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Diarrhea/parasitology
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Feces/parasitology
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Genotype
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Human
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Korea
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Male
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Mice
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Mice, Inbred BALB C
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Mice, Inbred C57BL
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Mice, Inbred ICR
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Oocysts
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Polymerase Chain Reaction
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Support, Non-U.S. Gov't
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Zoonoses/parasitology