31 research outputs found
Eradication of Recipient CMV Specific T Cells by Donor Lymphocyte Infusion Does Not Impair Protective Immunity In Patients Transplanted with a CMV Negative Donor Due to An Early Donor Derived Primary CMV Specific T Cell Response
Immunobiology of allogeneic stem cell transplantation and immunotherapy of hematological disease
Eradication of Recipient CMV Specific T Cells by Donor Lymphocyte Infusion Does Not Impair Protective Immunity In Patients Transplanted with a CMV Negative Donor Due to An Early Donor Derived Primary CMV Specific T Cell Response
Immunobiology of allogeneic stem cell transplantation and immunotherapy of hematological disease
Eleven Novel Mutations In The Factor Viii Gene From Brazilian Hemophilia A Patients
The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single- strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectivelly. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.8683015302
Quantitative Monitoring of NPM1A Mutations Can Be Used to Guide Immunotherapeutic Interventions After Allogeneic Stem Cell Transplantation for Acute Myeloid Leukemia
Immunobiology of allogeneic stem cell transplantation and immunotherapy of hematological disease
Quantitative Monitoring of NPM1A Mutations Can Be Used to Guide Immunotherapeutic Interventions After Allogeneic Stem Cell Transplantation for Acute Myeloid Leukemia
Immunobiology of allogeneic stem cell transplantation and immunotherapy of hematological disease
Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
Eleven Novel Mutations In The Factor Viii Gene From Brazilian Hemophilia A Patients.
The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.863015-2