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, 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., Paolucci, P., Fasth, A., Fischer, A., Giliani, S., Gomez, L., Hammarstorm, L., Jones, A., et al.. - In: IMMUNOLOGY TODAY. - ISSN 0167-5699. - ELETTRONICO. - 17(11):(1996), pp. 511-516. [10.1016/S0167-5699(96)80904-0]
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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