Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report

Figure 1 Expression of GPI-anchored proteins in patient peripheral blood cells before and after allo-HSCT. A: Before transplantation: expression of (left) CD59 on red cells, (center) CD24/FLAER on neutrophils, and (right) CD14/FLAER on monocytes. There is a mosaic of cells with normal expression of GPI-anchored proteins and cells with reduced (type II) or completely lacking expression (type III) of GPI-anchored proteins; B: After transplantation, CD59 was expressed on 99.8% of red cells (left), CD24/FLAER on 100% of neutrophils (center) and CD14/FLAER on 100% of monocytes (right).

Figure 2 Genetic analysis. A: Genetic sequencing. Cell sorting was performed on blood samples (Robosep, Easy sep CD3 whole blood positive selection kit^®). The positive fraction consisted of a T lymphocyte population (purity: 99%), and the negative fraction included B lymphocytes, natural killers, monocytes and polymorphonuclear cells. DNA was extracted from these two fractions using a Qiagen DNA minikit^®. The entire PIGT gene was sequenced by the Sanger method (Big Dye Terminator v3.1, Life Technologies) using primers for each exon; B: CGH array (Agilent, Sure Print G3 Human CGH Microarray 4x180K) performed on DNA extracted from bone marrow samples highlights a large somatic deletion of 18 Mb from 20q11.21 to 20q13.13, removing the entire PIGT gene.