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
em En
| WPRIM
| ID: wpr-87468
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Linhagem
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Cromossomo X
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Imunoglobulina M
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Cryptosporidium parvum
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Criptococose
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Cryptococcus neoformans
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Criptosporidiose
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Ligante de CD40
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Heterozigoto
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Hipergamaglobulinemia
Tipo de estudo:
Diagnostic_studies
Limite:
Animals
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Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Korean Medical Science
Ano de publicação:
2002
Tipo de documento:
Article