rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.
31331973
2019
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
26545377
2016
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
A
0.820
GeneticVariation
CLINVAR
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.
25541662
2014
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
T
0.820
CausalMutation
CLINVAR
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.
25541662
2014
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
BEFREE
In contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met ) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype.
23538518
2013
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
T
0.820
CausalMutation
CLINVAR
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
19575287
2009
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
T
0.820
CausalMutation
CLINVAR
"Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called ""milder"" mutants."
17351759
2007
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
A
0.820
GeneticVariation
CLINVAR
The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship.
10484640
1999
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
T
0.820
CausalMutation
CLINVAR
The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship.
10484640
1999
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
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
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
BEFREE
Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the CD40L gene, including a missense mutation (T254M ), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309+2t-->a).
9697710
1998
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
9150729
1997
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
A
0.820
GeneticVariation
CLINVAR
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
8889581
1996
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
8889581
1996
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
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
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.
7532185
1995
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
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
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
7679206
1993
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
7679801
1993
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.
7678782
1993
rs193922136
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.820
GeneticVariation
UNIPROT
CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.
8094231
1993
rs104894769
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.810
GeneticVariation
UNIPROT
Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.
31331973
2019
rs104894769
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.810
GeneticVariation
BEFREE
Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome .
29525420
2019
rs104894769
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.810
GeneticVariation
UNIPROT
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
26545377
2016
rs104894769
×
Entrez Id:
959
Gene Symbol:
CD40LG
CD40LG
Hyper-IgM Immunodeficiency Syndrome, Type 1
0.810
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