Detailed immunophenotypic characterization of different major and minor subsets of peripheral blood cells in patients with paroxysmal nocturnal hemoglobinuria

Transfusion
Pilar María Hernández-CampoAlberto Orfao

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by a deficient expression of glycosylphosphatidylinositol-anchored proteins (GPI-APs), due to somatic mutations of the phosphatidylinositolglycan complementation Class A (PIG-A) gene. In this study, the expression of a high number of GPI-APs on different subsets of peripheral blood (PB) cells from 14 PNH patients and their potential association with underlying genetic abnormalities has been analyzed. This study confirms the existence of variable patterns of expression of different GPI-APs on both major and minor PB-cell subsets from PNH patients. The size of the PNH clone within PB neutrophils and monocytes was systematically higher than that of other cell populations. Genetic changes were detected in the PIG-A gene in 5 of 13 cases analyzed. Interestingly, the reactivity for many GPI-APs was significantly higher on different subsets of normal PB cells from PNH patients than those observed on healthy volunteers. The best combination of markers for the diagnostic screening of PNH would include evaluation of CD14 on monocytes and of CD16 on neutrophils, although further analysis of CD55 and CD59 expression may contain additional clinically useful information. Clear associ...Continue Reading

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Citations

Jan 28, 2014·Medical Science Monitor : International Medical Journal of Experimental and Clinical Research·John V AsimakopoulosJohn Meletis
Dec 16, 2011·Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis·Hubert Schrezenmeier, Britta Höchsmann
Nov 16, 2010·Medicina clínica·Alvaro Urbano-IspizuaCarlos Vallejo
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Oct 2, 2019·Cytometry. Part B, Clinical Cytometry·Yuesheng ZhangGusheng Tang
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