title: Diagnosis of paroxysmal nocturnal haemoglobinuria using immunophenotyping of peripheral blood cells.
abstract: Paroxysmal nocturnal haemoglobinuria (PNH) is now generally accepted as a disease in which bone marrow derived cells are deficient in phosphatidylinositolglycan (PIG)-anchored surface molecules. A series of new monoclonal antibodies detecting PIG-anchored surface structures on human leucocytes (CD48, CD55, CD59) has recently been described. In the present study 12 patients with the diagnosis PNH and a positive Ham test were examined for PIG-anchored surface antigen expression on various cell lineages using immunofluorescence. In all patients deficient cells were detected in erythrocyte, granulocyte and monocyte analysis. A deficient lymphocyte subset was also observed in all but one of these patients. Using two-colour analysis, all lymphocyte subpopulations such as T, B and NK cells were found to be affected. In addition, peripheral blood cells of 22 patients with severe aplastic anaemia (SAA) were tested for the PIG-anchoring defect. In five of these patients the defect was detected, and in four of the five the lack of PIG-anchored molecules was confined to the granulocyte and monocyte lineages apparently without affecting the erythrocytes. The results of these studies demonstrate that cytofluorographic testing of peripheral blood cells provides a simple and reliable method for establishing the diagnosis of PNH. Furthermore, especially in the case of aplastic anaemia patients, the sensitivity of immunophenotyping might be superior to conventional laboratory tests.
authors.affiliation: Abteilung Immunologie und Transfusionsmedizin, Medizinische Hochschule, Hannover, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Schubert
authors.forename: M
authors.initials: M
authors.lastname: Alvarado
authors.forename: P
authors.initials: P
authors.lastname: Uciechowski
authors.forename: M
authors.initials: M
authors.lastname: Zielinska-Skowronek
authors.forename: M
authors.initials: M
authors.lastname: Freund
authors.forename: H
authors.initials: H
authors.lastname: Vogt
authors.forename: R E
authors.initials: RE
authors.lastname: Schmidt
mesh_terms: D000741:Anemia, Aplastic / Q000276:immunology; D000911:Antibodies, Monoclonal; D015703:Antigens, CD / Q000032:analysis*; D004912:Erythrocytes / Q000276:immunology; D017261:Glycosylphosphatidylinositols; D006098:Granulocytes / Q000276:immunology; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis* / Q000276:immunology; D006801:Humans; D008214:Lymphocytes / Q000276:immunology; D009000:Monocytes / Q000276:immunology; D010716:Phosphatidylinositols / Q000097:blood; D011134:Polysaccharides / Q000097:blood
chemical_list: D000911:Antibodies, Monoclonal; D015703:Antigens, CD; D017261:Glycosylphosphatidylinositols; D010716:Phosphatidylinositols; D011134:Polysaccharides