Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002874 (aplastic anemia)
 5,905 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The phosphatidylinositol (PI) bound proteins (acetylcholin-esterase (ACE), decay accelerating factor (DAF), leucocyte function antigen type 3 (LFA-3) and Fc-receptor type III (FcRIII] were estimated by flow cytometry on blood cells from four patients with paroxysmal nocturnal haemoglobinuria (PNH), nine patients with 'non-PNH' haemolytic anaemia, four patients with aplastic anaemia and a reference group of 15 healthy individuals to assess the applicability of flow cytometric measurements in the clinical mapping of the PNH defect. Estimation of DAF on granulocytes or monocytes offered the highest diagnostic sensitivity and specificity and may constitute an easy screening method for the PNH defect. One PNH patient had a negative Ham's test at the time of study and normal or near normal levels of PI-bound proteins on erythrocytes, but reduced expression of DAF and FcRIII on granulocytes and DAF on monocytes. The analytical and biological coefficient of variation for flow cytometric estimation of PI-bound proteins was in the range of 4.8-13% and 12-24%, respectively. Blood samples should be analysed without delay, since storage produced spuriously high results. The results were expressed as molecules per cell after calibration with commercially available standards and validated by comparison with previously reported results obtained by other methods. It is proposed that this way of reporting flow cytometric results should be generally adopted to facilitate comparison of results between laboratories.
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PMID:Estimation of PI-bound proteins on blood cells from PNH patients by quantitative flow cytometry. 169 48

The FcRIII on human granulocytes is a glycosyl-phosphatidylinositol-anchored membrane protein. In PNH, proteins with this type of membrane linkage are known to be deficient on blood cells. The purpose of this study was to assess the diagnostic value of flow cytometric FcRIII quantification on granulocytes in PNH. Immunofluorescence measurements were performed in 105 patients, including 7 patients with PNH, 16 patients with aplastic anemia, and 12 with myelodysplastic syndrome, by a whole blood immunofluorescent staining procedure using monoclonal antibodies to FcRIII. In all 7 PNH patients and in 3 patients with aplastic anaemia, a distinct FcRIII-deficient granulocyte population of variable size was found. None of the remaining patients showed a similar population of FcRIII-deficient granulocytes. Quantification of FcRIII-deficient neutrophils is shown to be a highly specific and sensitive diagnostic test for PNH. It is easy, fast and highly reproducible and, therefore, suitable for routine diagnostic and follow-up studies in PNH patients and patients with aplastic anemia.
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PMID:Fc III receptors (FcRIII) on granulocytes: a specific and sensitive diagnostic test for paroxysmal nocturnal hemoglobinuria (PNH). 183 36

Paroxysmal nocturnal hemoglobinuria (PNH) is a disease that affects not only red cells, but other blood cells as well. The common defect is supposed to be an acquired deficiency of glycosyl-phosphatidylinositol (GPI)-anchored membrane proteins, which may be present already at the hematopoietic stem cell level. Recently, a panel of monoclonal antibodies (MoAbs) has become available directed against various GPI-linked membrane proteins. This makes it possible to study various cell lineages for the deficiency of such proteins in PNH in more detail. Using cytofluorography, we could show that the granulocytes of 20 different PNH patients miss not only GPI-linked FcRIII (CD16 antigen), but also three other GPI-linked proteins, ie, CD24 antigen, CD67 antigen and a granulocyte-specific 50 to 80 Kd antigen. The affected granulocytes were not only neutrophils but also eosinophils, as was found in a more detailed analysis of three patients. Moreover, in all 10 PNH patients tested, the monocytes were found to be deficient for the GPI-linked CD14 antigen, and we found with CD24 and CD55 (DAF) antibodies that lymphocytes may be involved as well. However, abnormal B and T lymphocytes were detected only in a subset of patients (2 of 10 tested). The uniform deficiency of GPI-linked proteins of granulocytes allows the introduction of a new diagnostic cytofluorometric assay for PNH with MoAbs against GPI-linked granulocytic antigens. This test was positive in all PNH patients studied and not in a group of 40 control patients or 50 normal donors, with the exception of three of 16 aplastic anemia (AA) patients. In the three AA patients, subpopulations (10% to 20%) of PNH granulocytes could be detected, whereas these patients had a negative acidified serum (Ham) test. This indicates that the new test is more sensitive than the Ham test and allows the early diagnosis of PNH in AA. An advantage of the neutrophil assay is that, in contrast to the Ham test, it is not influenced by recent red-cell transfusions. Moreover, it is possible to quantify the number of affected cells by single cell analysis.
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PMID:Deficiency of glycosyl-phosphatidylinositol-linked membrane glycoproteins of leukocytes in paroxysmal nocturnal hemoglobinuria, description of a new diagnostic cytofluorometric assay. 214 90