Abstract
X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations has now been established, and the resultant information, together with other mutations reported elsewhere in the literature, is presented here.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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CD40 Antigens / genetics*
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CD40 Ligand
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Databases, Factual*
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Genetic Linkage
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Humans
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Hypergammaglobulinemia / genetics*
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Immunoglobulin M / genetics*
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Ligands
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Membrane Glycoproteins / genetics*
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Mutation*
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X Chromosome*
Substances
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CD40 Antigens
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Immunoglobulin M
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Ligands
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Membrane Glycoproteins
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CD40 Ligand