Publicação
Mechanisms of paroxysmal nocturnal hemoglobinuria clonal expansion
| Resumo: | Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired clonal disease of bone marrow stem-cells, genetically characterized by the somatic mutation of the phosphatidylinositol glycan class A (PIG-A) gene. That leads to defective synthesis of glycosylphosphatidylinositol (GPI) responsible for anchorage and fixation of surface proteins like complement decay-accelerating factor (DAF/CD55) and membrane inhibitor of reactive lysis (MIRL/CD59). These proteins protect red blood cells from lysis by activated complement, leading to intravascular hemolysis. |
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| Autores principais: | Peixoto, Vanda |
| Outros Autores: | Vieira da Silva, Manuela; Prudêncio, Cristina |
| Assunto: | Paroxysmal nocturnal hemoglobinuria PIG-A gene Clonal expansion |
| Ano: | 2018 |
| País: | Portugal |
| Tipo de documento: | documento de conferência |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Instituto Politécnico do Porto |
| Idioma: | inglês |
| Origem: | Repositório Científico do Instituto Politécnico do Porto |
| Resumo: | Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired clonal disease of bone marrow stem-cells, genetically characterized by the somatic mutation of the phosphatidylinositol glycan class A (PIG-A) gene. That leads to defective synthesis of glycosylphosphatidylinositol (GPI) responsible for anchorage and fixation of surface proteins like complement decay-accelerating factor (DAF/CD55) and membrane inhibitor of reactive lysis (MIRL/CD59). These proteins protect red blood cells from lysis by activated complement, leading to intravascular hemolysis. |
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