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Article

Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China.

Scandinavian journal of immunology - 1 Jul 2010

An Y, Xiao J, Jiang L, Yang X, Yu J, Zhao X

Abstract excerpt

X-linked Hyper-IgM syndrome (XHIM) is caused by mutations of CD154 gene also known as CD40 ligand (CD40L). CD40L is expressed in activated T cells and interacts with CD40 receptor expressed on B lymphocytes and dendritic cells. Affected patients present cellular and humoral immune defects, with infections by intracellular, opportunistic and extracellular pathogens. In the present study, we investigate molecular...

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Identifiers

PMID: 20591076
DOI: 10.1111/j.1365-3083.2010.02406.x

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