|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
<b>Background</b>: Mutations in CD40 ligand gene (<i>CD40L</i>) affecting immunoglobulin class-switch recombination and somatic hypermutation can result in X-Linked Hyper IgM Syndrome (HIGM1, XHIGM), a kind of rare serious primary immunodeficiency disease (PID) characterized by the deficiency of IgG, IgA and IgE and normal or increased serum concentrations of IgM.
|
31401902 |
2020 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper-IgM syndrome (XHIM) results from mutations in the gene encoding for CD40 ligand (CD154).
|
10207167 |
1999 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper IgM syndrome is largely caused by defects in the CD40L (CD154).
|
11107502 |
2000 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper IgM syndrome: a report of the first case in Thailand with a confirmed mutation of CD40 ligand gene.
|
11270473 |
2000 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked Hyper IgM Syndrome (HIM) is a rare congenital immunodeficiency recently demonstrated to be caused by a mutation in the gene encoding CD40 ligand.
|
11906038 |
2001 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper-IgM syndrome (HIGM1) (MIM musical sharp 308230), is a severe primary immunodeficiency caused by mutations in the gene coding for CD40 ligand (CD40L or CD154), a member of the tumour necrosis factor (TNF) superfamily.
|
12823286 |
2003 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper-IgM syndrome (XHIM), or hyper-IgM syndrome type 1 (HIGM1), is a rare primary immunodeficiency disorder susceptible to recurrent bacterial infection and opportunistic infection such as Pneumocystis carinii and Cryptosporidium parvum.
|
15114594 |
2004 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder caused by mutations of the gene encoding the CD40 ligand (CD40L).
|
15997875 |
2005 |
|
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 |
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 |
X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.
|
23010537 |
2015 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper-IgM syndrome (XHIM) is a severe congenital immunodeficiency caused by mutations in CD154 (CD40 ligand, gp39), the T cell ligand for CD40 on B cells.
|
9857288 |
1998 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals.
|
10559240 |
1999 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
CD40 ligand (CD40L) deficiency or X-linked Hyper-IgM syndrome is a severe primary immunodeficiency caused by mutations in the CD40L gene.
|
30681380 |
2019 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
|
7679801 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
|
7679801 |
1993 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
A defect in the CD40L has been shown recently to be responsible for the lack of IgE, IgA, and IgG, characteristic of the childhood X-linked immunodeficiency, hyper IgM syndrome (HIGM1).
|
7964460 |
1994 |
|
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 |