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 hypogammaglobulin...

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Autores principales: Jo, Eun Kyeong, Kim, Hyung Seok, Lee, Min Young, Iseki, Motohiro, Lee, Jae Ho, Song, Chang Hwa, Park, Jeong Kyu, Hwang, Tai Ju, Kook, Hoon
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 2002
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054829/
https://www.ncbi.nlm.nih.gov/pubmed/11850600

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