CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
While paroxysmal nocturnal hemoglobinuria (PNH) results from the combined deficiency of the regulatory complement proteins CD55 and CD59, which is caused by somatic mutation of a common membrane anchor, isolated CD55 or CD59 deficiency is associated with the CHAPLE syndrome and polyneuropathy, respectively.
|
31421540 |
2019 |
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.
|
25716358 |
2015 |
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
In this review we describe differences and similarities in the pathogenesis and clinical manifestations of PNH and primary CD59 Cys89Tyr mutation with the aim of tracking the contribution of CD59 deficiency to the pathophysiology and perhaps deepening our understanding of both diseases.
|
25818314 |
2015 |
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
BEFREE |
The severe clinical symptoms of inherited CD59 deficiency confirm the importance of CD59 as essential complement regulatory protein for protection of cells against complement attack, in particular protection of hematopoietic cells and human neuronal tissue.
|
26043388 |
2015 |
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Seven cases of an isolated CD59 deficiency due to three distinct null alleles of the CD59 gene have been published so far.
|
24383981 |
2014 |
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Targeted therapy with eculizumab for inherited CD59 deficiency.
|
24382084 |
2014 |
CD59 Deficiency
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59.
|
23149847 |
2013 |
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59.
|
23149847 |
2013 |
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59.
|
23149847 |
2013 |
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59.
|
23149847 |
2013 |
CD59 Deficiency
|
0.760 |
AlteredExpression
|
disease |
BEFREE |
Northern blotting and reverse transcription-PCR revealed that the main cause of the DAF and/or CD59 deficiency is the failure of mRNA expression in most of the cell lines, except in Ramos(-) in which sufficient mRNA for DAF and CD59 was produced.
|
8615796 |
1996 |
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene.
|
1382994 |
1992 |
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene.
|
1382994 |
1992 |
CD59 Deficiency
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
BEFREE |
The latter is used to delineate PNH Type III (total loss of CD59) and PNH Type II RBCs (partial loss of CD59) from normal (Type I) RBCs.
|
31705743 |
2020 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
BEFREE |
While paroxysmal nocturnal hemoglobinuria (PNH) results from the combined deficiency of the regulatory complement proteins CD55 and CD59, which is caused by somatic mutation of a common membrane anchor, isolated CD55 or CD59 deficiency is associated with the CHAPLE syndrome and polyneuropathy, respectively.
|
31421540 |
2019 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Detailed analysis of morphology, volume, and density of red blood cells with various CD59 expression levels from patients with PNH did not provide indications for a major aberration of the red blood cell aging process in patients with PNH.
|
31156458 |
2019 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PNH's etiopathogenesis is based on acquired mutations that lead to the reduction or absence of CD55 and CD59 complement regulators, which are responsible for some of the disease's major clinical features, like intravascular hemolysis, cytopenias and thrombosis.
|
29486674 |
2018 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
BEFREE |
It is suggested that CD59 loss represents a major arterial prothrombotic factor in PNH and additional diseases.
|
29929138 |
2018 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic disease caused by expansion of a stem cell that harbors a somatic mutation in <i>PIGA</i> PIGA mutant blood cells are deficient in the complement regulator proteins CD55 and CD59, making them susceptible to intravascular hemolysis due to a failure to regulate the APC on erythrocytes.
|
30504334 |
2018 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
BEFREE |
A group O patient with a 9% CD59-deficient PNH clone was sensitized with an IgM anti-I.
|
29296844 |
2017 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
BEFREE |
Despite the uniform deficiency of CD55 and of CD59, there are always two distinct populations of PNH RBCs, with (C3+) and without (C3-) C3 binding.
|
28629435 |
2017 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
BEFREE |
The loss of CD55 and CD59 renders PNH erythrocytes susceptible to intravascular haemolysis, which can lead to thrombosis and to much of the morbidity and mortality of PNH.
|
28516949 |
2017 |