title: CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
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.
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
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authors.lastname: de Saint Basile
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authors.lastname: Duse
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authors.lastname: Espanol
authors.forename: A
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authors.lastname: Etzioni
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authors.lastname: Fasth
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authors.lastname: Fischer
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authors.lastname: Giliani
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authors.lastname: Gomez
authors.forename: L
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authors.lastname: Hammarstorm
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authors.lastname: Kanariou
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authors.lastname: Klemola
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authors.lastname: Levy
authors.forename: N
authors.initials: N
authors.lastname: Matamoros
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authors.initials: V
authors.lastname: Monafo
authors.forename: P
authors.initials: P
authors.lastname: Paolucci
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authors.lastname: Reznick
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authors.forename: C I
authors.initials: CI
authors.lastname: Smith
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authors.initials: RA
authors.lastname: Thompson
authors.forename: P
authors.initials: P
authors.lastname: Tovo
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: M
authors.initials: M
authors.lastname: Vihinen
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authors.initials: J
authors.lastname: Vossen
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authors.initials: BJ
authors.lastname: Zegers
mesh_terms: D019013:CD40 Antigens / Q000235:genetics*; D023201:CD40 Ligand; D016208:Databases, Factual; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000235:genetics*; D008024:Ligands; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D014960:X Chromosome
chemical_list: D019013:CD40 Antigens; D007075:Immunoglobulin M; D008024:Ligands; D008562:Membrane Glycoproteins; D023201:CD40 Ligand