|
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 |
Genetically, at least 4 distinct molecular defects have been identified that result in defective CSR and present as HIGM syndromes: defects of the CD40 ligand gene (CD40L; HIGM1, X-linked), the activation-induced cytidine deaminase gene (AID; HIGM2, autosomal recessive), the CD40 gene (HIGM3, autosomal recessive), and the nuclear factor-kappaB (NF-kappaB) essential modulator gene (NEMO, or IKK-gamma, X-linked).
|
14610488 |
2003 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our knowledge of the CD40L gene structure will prove useful for the identification of additional mutations in HIGM1 and for performing genetic counseling about this disease.
|
7907793 |
1994 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
These mutations reflected the heterogeneity of CD40L gene and expanded our understanding of XHIGM.
|
25215306 |
2014 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CD40 ligand (CD40L) gene (<i>CD40LG</i>) lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels.
|
29780795 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We present a boy with hyper-IgM syndrome with a previously not reported mutation in the CD40 ligand gene.
|
9030857 |
1997 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CD40L gene are now known to cause X-linked hyper-IgM syndrome (HIGM1), an immunodeficiency characterized by the absence of serum IgG, IgA and IgE.
|
7506037 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The hyper immunoglobulin M (IgM) syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, and defective class switch recombination and somatic hypermutation, is a heterogenous disorder with at least 5 distinct molecular defects, including mutations of the genes coding for the CD40 ligand (CD40L) and IKK-gamma (NEMO) genes, both X-linked; and mutations of CD40, activation-induced cytidine deaminase (AICDA), and uracil-DNA glycosylase (UNG), associated with autosomal recessive HIGM syndromes.
|
15358621 |
2005 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
|
7679206 |
1993 |
|
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 is largely caused by defects in the CD40L (CD154).
|
11107502 |
2000 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An aggressive form of polyarticular arthritis in a man with CD154 mutation (X-linked hyper-IgM syndrome).
|
10366125 |
1999 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These data suggest that a defect in gp39 is the basis of X-linked HIM.
|
7678782 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We propose that the CD40 ligand mutations that cause XHIM deprive the biliary epithelium of one line of defense against intracellular pathogens and that malignant transformation in the biliary tree follows chronic infection or inflammation.
|
8993019 |
1997 |
|
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 |
The recent discovery that defects in the gene encoding the CD40 ligand are the underlying cause of the X-linked hyper IgM syndrome highlights the role of CD40 and its ligand in Ig-isotype switching.
|
7507684 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Enhanced pAKT was not observed in B cells of healthy controls, patients with common variable immunodeficiency, and hyper IgM syndrome due to CD40L deficiency.
|
29675019 |
2018 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that a defect in gp39 is the basis of X-linked HIM.
|
7678782 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding CD40L are known to induce X-linked hyper-IgM syndrome.
|
9819192 |
1998 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
|
8961627 |
1996 |
|
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 |