2010
DOI: 10.1159/000321324
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Advances in the Genetics of Anti-Glomerular Basement Membrane Disease

Abstract: Anti-glomerular basement membrane (GBM) disease is a rare but lethal autoimmune disorder. Over the past few years, the nature of the autoantigen and its epitopes has been defined, as well as the possible pathogenic role played by environmental factors, and by cellular and humoral immunity. However, the majority of data on anti-GBM disease comes from studies conducted on animal models, since human studies are relatively scarce. Genetic studies have highlighted strong positive associations of anti-GBM disease wi… Show more

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Cited by 22 publications
(12 citation statements)
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“…Anti-GBM disease shows an incidence of 0.5-1 case/million people per year [50] . It has been proposed that anti-GBM disease could be triggered over genetically predisposed patients (HLA-DRB1*1501 allele and genes of the FCGR and KLK families [51] ) by environmental or cellular/humoral immunity factors. These auto-antibodies attack GBM disturbing its intrinsic structure, explaining the almost always present haematuria, with nephritic syndrome and crescentic glomerulonephritis.…”
Section: Primary Gbm Disordersmentioning
confidence: 99%
“…Anti-GBM disease shows an incidence of 0.5-1 case/million people per year [50] . It has been proposed that anti-GBM disease could be triggered over genetically predisposed patients (HLA-DRB1*1501 allele and genes of the FCGR and KLK families [51] ) by environmental or cellular/humoral immunity factors. These auto-antibodies attack GBM disturbing its intrinsic structure, explaining the almost always present haematuria, with nephritic syndrome and crescentic glomerulonephritis.…”
Section: Primary Gbm Disordersmentioning
confidence: 99%
“…[1] It is responsible for 10-20% of rapidly progressive renal failure. [2] The renal biopsy shows crescentic glomerulonephritis (CrGN) >50% glomeruli with crescents) in more than 80% of patients.…”
Section: Introductionmentioning
confidence: 99%
“…We also reported on the overlap between several autoimmune diseases: systemic lupus erythematosus (SLE), rheumatoid arthritis, ANCA-associated small vasculitis, and anti-glomerular basement membrane disease (16)(17)(18)(19)(20)(21)(22)(23)(24)(25). Thus, we hypothesized that refinement of GWAS data or identification of IgAN susceptibility genes could be underpinned by investigation of the genetic variants reported to be associated with other immune-related diseases.…”
Section: Introductionmentioning
confidence: 99%