CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
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.
Notarangelo
L D
LD
Peitsch
M C
MC
Abrahamsen
T G
TG
Bachelot
C
C
Bordigoni
P
P
Cant
A J
AJ
Chapel
H
H
Clementi
M
M
Deacock
S
S
de Saint Basile
G
G
Duse
M
M
Espanol
T
T
Etzioni
A
A
Fasth
A
A
Fischer
A
A
Giliani
S
S
Gomez
L
L
Hammarstorm
L
L
Jones
A
A
Kanariou
M
M
Kinnon
C
C
Klemola
T
T
Kroczek
R A
RA
Levy
J
J
Matamoros
N
N
Monafo
V
V
Paolucci
P
P
Reznick
I
I
Sanal
O
O
Smith
C I
CI
Thompson
R A
RA
Tovo
P
P
Villa
A
A
Vihinen
M
M
Vossen
J
J
Zegers
B J
BJ
D019013:CD40 Antigens / Q000235:genetics*; D023201:CD40 Ligand; D016208:Databases, Factual; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000235:genetics*; D008024:Ligands; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D014960:X Chromosome
D019013:CD40 Antigens; D007075:Immunoglobulin M; D008024:Ligands; D008562:Membrane Glycoproteins; D023201:CD40 Ligand