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., 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., Paolucci P., Reznick I., Sanal O., Smith CI., Thompson RA., Tovo P., Villa A., Vihinen M., Vossen J., Zegers BJ.
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.