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CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.

Notarangelo, L D; Peitsch, M C; Abrahamsen, T G; Bachelot, C; Bordigoni, P; Cant, A J; Chapel, H; Clementi, M; Deacock, S; de Saint Basile, G; Duse, M; Espanol, T; Etzioni, A; Fasth, A; Fischer, A; Giliani, S; Gomez, L; Hammarstorm, L; Jones, A; Kanariou, M; Kinnon, C; Klemola, T; Kroczek, R A; Levy, J; Matamoros, N; Monafo, V; Paolucci, P; Reznick, I; Sanal, O; Smith, C I; Thompson, R A; Tovo, P; Villa, A; Vihinen, M; Vossen, J; Zegers, B J.

Immunol Today ; 17(11): 511-6, 1996 Nov.

Article in English | MEDLINE | ID: mdl-8961627

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.

Subject(s)

CD40 Antigens/genetics , Databases, Factual , Hypergammaglobulinemia/genetics , Immunoglobulin M/genetics , Membrane Glycoproteins/genetics , Mutation , X Chromosome , CD40 Ligand , Genetic Linkage , Humans , Ligands

ABSTRACT

Subject(s)

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