rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.
31331973
2019
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
26545377
2016
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.
9746782
1998
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
9150729
1997
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
8889581
1996
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
8550833
1996
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
7717401
1995
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.
7532185
1995
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
G
0.800
GeneticVariation
CLINVAR
CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers.
7916370
1994
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
7679801
1993
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.
7678782
1993
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
G
0.800
GeneticVariation
CLINVAR
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
7679206
1993
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.
8094231
1993
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.800
GeneticVariation
UNIPROT
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
7679206
1993
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
G
0.800
GeneticVariation
CLINVAR
Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT.
1427881
1992
rs104894774
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
G
0.800
CausalMutation
CLINVAR