Hyper-IgM Immunodeficiency Syndrome, Type 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
|
26545377 |
2016 |
Hyper-IgM Immunodeficiency Syndrome, Type 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
First report of successful stem cell transplantation in a child with CD40 deficiency.
|
17502893 |
2007 |
Hyper-IgM Immunodeficiency Syndrome, Type 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
|
11675497 |
2001 |
Hyper-IgM Immunodeficiency Syndrome, Type 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
|
11675497 |
2001 |
Hyper-IgM Immunodeficiency Syndrome, Type 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Obesity
|
0.520 |
Biomarker
|
disease |
BEFREE |
CD40-CD40L signaling plays a central role in obesity-induced inflammation.
|
30096208 |
2018 |
Obesity
|
0.520 |
Biomarker
|
disease |
CTD_human |
Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants.
|
29035695 |
2018 |
Obesity
|
0.520 |
AlteredExpression
|
disease |
BEFREE |
Finally, levels of soluble CD40 showed a positive association with obesity in humans, suggesting clinical relevance of our findings.
|
24664276 |
2014 |
Obesity
|
0.520 |
Therapeutic
|
disease |
RGD |
Effect of enhanced glycemic control with saxagliptin on endothelial nitric oxide release and CD40 levels in obese rats.
|
21670556 |
2011 |
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
|
30423114 |
2019 |
Rheumatoid Arthritis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The expansion of a CD4 + T cell subpopulation expressing CD40 was identified in the RA group.
|
31313080 |
2019 |
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although blockade of the CD40-CD40L pathway with BI 655064 in MTX-IR patients with RA resulted in marked changes in clinical and biological parameters, including reductions in activated B-cells, autoantibody production and inflammatory and bone resorption markers, with a favourable safety profile, clinical efficacy was not demonstrated in this small phase IIa study.
|
30902820 |
2019 |
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In fact, CD40 pathways is especially operative in B cells, that are currently a major therapeutic target in MS field.
|
30837932 |
2019 |
Multiple Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
CD40 is highly expressed on MHCII<sup>+</sup> B cells, dendritic cells and macrophages in human MS lesions.
|
30471110 |
2019 |
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Infected B cell proliferation is driven by signalling through the EBV produced cell surface protein LMP1, a homologue of the MS risk gene CD40.
|
31039804 |
2019 |
Rheumatoid Arthritis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genetic studies have implicated both CD40 and tumour necrosis factor receptor-associated factor-1 (TRAF1) with rheumatoid arthritis (RA).
|
30735108 |
2018 |
Multiple Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using flow cytometry we measured surface expression of CD40 and CD86 in B cells from 68 patients and 162 healthy controls that were genotyped for the multiple sclerosis associated single nucleotide polymorphisms (SNPs) rs4810485, which maps within the CD40 gene, and rs9282641, which maps within the CD86 gene.
|
29361022 |
2018 |
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
TLR4 and CD40 co-stimulation synergistically increased the frequency of IL-10-producing but not pro-inflammatory cytokine-producing B cells at MS relapse.
|
29146546 |
2018 |
Rheumatoid Arthritis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP).
|
29254239 |
2017 |
Rheumatoid Arthritis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In conclusion, our data suggest that therapeutic CD40-CD40L blocking agents may prove efficacious not only in early and established RA, but also in inhibiting the progression of the disease from arthralgia or UA to RA.
|
28455435 |
2017 |
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Strategies that aim to inhibit leukocyte migration across the blood-brain barrier (BBB) are therefore regarded as promising therapeutic approaches to combat MS. As the CD40L-CD40 dyad signals via TNF receptor-associated factor 6 (TRAF6) in myeloid cells to induce inflammation and leukocyte trafficking, we explored the hypothesis that specific inhibition of CD40-TRAF6 interactions can ameliorate neuro-inflammation.
|
28494768 |
2017 |
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we discuss the genetic, experimental and clinical studies on the role of CD40 and CD40L interactions in EAE and MS and we explore novel approaches to therapeutically target this dyad to combat neuroinflammatory diseases.
|
29312317 |
2017 |
Multiple Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
CD40-CD154 interaction is critically involved in autoimmune diseases, and CD4 T cells play a dominant role in the Experimental Autoimmune Encephalomyelitis (EAE) model of Multiple Sclerosis (MS).
|
28192476 |
2017 |