Article
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
Immunology today - 1 Nov 1996
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
Abstract excerpt
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 pr...
Topics
- CD40 Antigens
- CD40 Ligand
- Databases, Factual
- Genetic Linkage
- Humans
- Hypergammaglobulinemia
- Immunoglobulin M
- Ligands
- Membrane Glycoproteins
- Mutation