| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | group | BEFREE | X-linked hyper IgM Syndrome (XLHIGM), the most frequent form of the Hyper IgM syndromes is a primary immune deficiency resulting from a mutation in the CD40 ligand gene (CD40LG). | 30053428 | 2018 | ||||
|
0.170 | Biomarker | group | BEFREE | The presence of the hallmark of primary biliary cholangitis, a disease where the CD40 ligand is a key player, in an immunodeficiency disease caused by mutations in the CD40 ligand gene is very intriguing and opens new scenarios in understanding the immune pathogenesis of primary biliary cholangitis. | 29400703 | 2018 | ||||
|
0.170 | Biomarker | group | BEFREE | Data generated from CD40L(-/-) and CD4(-/-) mice revealed that the protection was indeed CD40L mediated but CD4(+) T cell independent, demonstrating the viability of the fusion Ags in protecting immunodeficient hosts. | 24928989 | 2014 | ||||
|
0.170 | Biomarker | group | BEFREE | Intratumoral injections with AdEHCD40L reduced preexisting MDA-MB-231 xenograft growth in severe combined immunodeficient mice by >99% and was significantly more effective (P<0.003) than parental virus AdEH (69%) or the recombinant CD40L protein (49%). | 19228733 | 2009 | ||||
|
0.170 | Biomarker | group | BEFREE | A new mutation of the CD40LG gene that encodes the CD40 ligand molecule was characterized in a young patient harboring a hyper-IgM with immunodeficiency syndrome. | 17146684 | 2007 | ||||
|
0.170 | Biomarker | group | BEFREE | CD40 ligand (CD40L) deficiency is a rare X linked immunodeficiency disorder leading to recurrent bacterial infection, with cryptosporidial enteritis and subsequent hepatic cirrhosis. | 11369571 | 2001 | ||||
|
0.170 | GeneticVariation | group | BEFREE | X-linked hyper-IgM syndrome is a rare immunodeficiency disorder resulting from mutations in the gene encoding the CD40 ligand (CD154) molecule. | 10559240 | 1999 | ||||
|
0.170 | Biomarker | group | HPO |