Peixoto, VandaVieira da Silva, ManuelaPrudêncio, Cristina2024-06-172024-06-172018-05-18Peixoto, V., Vieira, M., & Prudêncio, C. (2018). Mechanisms of paroxysmal nocturnal hemoglobinuria clonal expansion. Book of abstracts of the III Encontro de Biotecnologia Medicinal/ I Iberian Congress on Medicinal Biotechnology, 48. https://paginas.ess.ipp.pt/ebtm/2018/3EBtM_BookOfAbstracts.pdf978-989-20-8533-3http://hdl.handle.net/10400.22/25679Paroxysmal 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.engParoxysmal nocturnal hemoglobinuriaPIG-A geneClonal expansionconference object