|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in this gene (CD40LG) lead to X-linked hyper-IgM syndrome.
|
25430087 |
2014 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
The identified mutations reflect the heterogeneity of the CD40L gene in HIGM1.
|
24768948 |
2014 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.
|
25268346 |
2014 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CD40 ligand (CD40L) acts as an immune modulator in activated T cells, and mutations in the extracellular domain are associated to X-linked hyper IgM syndrome.
|
24030045 |
2014 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Absence of CD40L during monocyte/DC differentiation leads to functional DC abnormalities, which may contribute to the susceptibility to fungal infections in patients with X-HIGM.
|
22154528 |
2012 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency disorder (PID) caused by mutation in the gene encoding the CD40 ligand (CD40L) expressed on activated T cells.
|
21958324 |
2012 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper IgM syndrome is associated with abnormalities in the gene encoding CD40 ligand (CD40LG).
|
22322937 |
2012 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present two siblings with XHIM caused by a large CD40LG deletion affecting more than half of the gene, and extended from the end of intron 3 to far upstream of the promoter regions.
|
22750225 |
2012 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
CD40 ligand (CD40L) deficiency or X-linked hyper-IgM syndrome (X-HIGM) is a well-described primary immunodeficiency in which Pneumocystis jiroveci pneumonia is a common clinical feature.
|
22193914 |
2012 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature.
|
22678466 |
2012 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Remarkably, primary HIGM1 lymphocytes transduced with pCD40L-CD40L LV expressed CD40L only after T-cell stimulation.
|
21107438 |
2011 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigate molecular defects involved in the XHIM in five patients and identified five distinct CD40L mutations, three of which had not been previously described.
|
20591076 |
2010 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pitfalls of "hyper"-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature.
|
20981468 |
2010 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China.
|
20591076 |
2010 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nonetheless, despite their inability to express CD154 and initiate GC responses, patients with type 1 hyper-IgM syndrome (HIGM1) support populations of IgM(+)IgD(+)CD27(+) B cells that express mutated Ig genes.
|
19667096 |
2009 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
|
19575287 |
2009 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
|
19575287 |
2009 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Type 1, X-linked Hyper-IgM syndrome (HIGM1) is caused by mutations in the gene encoding the CD154 protein, also known as CD40 ligand (CD40LG).
|
19170966 |
2009 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.
|
18594157 |
2008 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
A case of cerebral toxoplasmosis is reported in a previously healthy 41-year-old man who was found to have a genetic defect in CD40 ligand, resulting in the X linked hyper-IgM syndrome despite normal surface protein expression on flow cytometry.
|
18955577 |
2008 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
X-linked hyper-immunoglobulin M syndrome (XHIGM) is a primary immunodeficiency disorder characterized by severe defects of both cellular and humoral immunity due to impaired expression of CD40 ligand on activated T lymphocytes.
|
18805740 |
2008 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
"Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called ""milder"" mutants."
|
17351759 |
2007 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, all the XHIGM causing missense mutations could be explained in terms of CD40L structure and function.
|
17307885 |
2007 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Thus, the reciprocal translocation caused the disruption of CD40LG, resulting in defective CD40L expression in the female patient with an extremely skewed X-inactivation pattern in T cells leading to the HIGM1 phenotype.
|
16311023 |
2006 |