- X-linked Hyper-IgM Syndrome Associated with Cryptosporidium parvum and Cryptococcus neoformans Infections: the First Case with Molecular Diagnosis in Korea
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Jo EK, Kim HS, Lee MY, Iseki M, Lee JH, Song CH, Park JK, Hwang TJ, Kook H
- KMID: 2157605
- J Korean Med Sci.
- 2002 Feb;17(1):116-120.
- doi: 10.3346/jkms.2002.17.1.116
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... -
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