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.
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome / Notarangelo, Ld; Peitsch, Mc; Abrahamsen, Tg; Bachelot, C; Bordigoni, P; Cant, Aj; Chapel, H; Clementi, M; Deacock, S; de Saint Basile, G; Duse, M; Espanol, T; Etzioni, A; Paolucci, Paolo; Fasth, A; Fischer, A; Giliani, S; Gomez, L; Hammarstorm, L; Jones, A; Kanariou, M; Kinnon, C; Klemola, T; Kroczek, Ra; Levy, J; Matamoros, N; Monafo, V; Reznick, I; Sanal, O; Smith, Ci; Thompson, Ra; Tovo, P; Villa, A; Vihinen, M; Vossen, J; Zegers, B. J.. - In: IMMUNOLOGY TODAY. - ISSN 0167-5699. - ELETTRONICO. - 17(11):(1996), pp. 511-516.
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
PAOLUCCI, Paolo;
1996
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.
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