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
- M. Duse
- 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
DOIAbstract
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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