Disease relevance of Anemia, Diamond-Blackfan

• Elevation of the serum Fas ligand in patients with hemophagocytic syndrome and Diamond-Blackfan anemia [1].
• Ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia [2].
• In this study, we have measured serum sFasL concentrations in other hematological disorders, including severe aplastic anemia (SAA), hemophagocytic lymphohistiocytosis (HLH), and Diamond-Blackfan anemia (DBA) [1].
• We report here a case of B19-induced anemia in a patient with G6PD deficiency and hypogammaglobulinemia which was mislabeled as Diamond-Blackfan anemia until the use of modern laboratory techniques allowed a correct diagnosis to be made [3].

High impact information on Anemia, Diamond-Blackfan

• Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia [4].
• Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia, is a model disease for the study of erythroid differentiation but is poorly understood [5].
• Diamond-Blackfan anemia responding to valproic acid [6].
• Expression of SCL is normal in transfusion-dependent Diamond-Blackfan anemia but other bHLH proteins are deficient [7].
• Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia [8].

Chemical compound and disease context of Anemia, Diamond-Blackfan

• Oral megadose methylprednisolone for Diamond-Blackfan anemia [9].
• CONCLUSIONS: We conclude that very high doses of methylprednisolone may induce sustained remission in some patients with transfusion-dependent Diamond-Blackfan anemia refractory to standard-dose prednisone therapy [10].
• Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia [11].
• Cyclosporin A for Diamond-Blackfan anemia: a new case [12].
• Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia [13].

Biological context of Anemia, Diamond-Blackfan

• For these studies, full nucleotide sequences for coding regions of c-kit and SCF were generated for two Diamond-Blackfan anemia patients and were normal [14].
• Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia [15].
• The human ribosomal protein S19 gene (RPS19) is mutated in approximately 20% of patients with Diamond-Blackfan anemia (DBA), a congenital disease with a specific defect in erythropoiesis [16].

Anatomical context of Anemia, Diamond-Blackfan

• To provide insights into the pathogenesis of Diamond-Blackfan anemia, we examined the in vitro response of erythroid progenitors to the recently isolated ligand for c-kit (stem cell factor, SCF) [17].
• In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia [18].
• Growth hormone deficiency caused by pituitary stalk interruption in Diamond-Blackfan anemia [19].
• SCF production by marrow stromal fibroblasts from a symptomatic patient with Diamond-Blackfan anemia was equivalent to simultaneously studied normal marrow fibroblasts [20].
• Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child [21].

Gene context of Anemia, Diamond-Blackfan

• Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology [2].
• The data raise the possibility of IL-3 as a therapeutic agent in Diamond-Blackfan anemia [22].
• Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia [23].
• The gene encoding RPS19 is mutated in approximately 25% of patients with Diamond-Blackfan anemia, which is a rare congenital erythroblastopenia [24].
• Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia [14].

Analytical, diagnostic and therapeutic context of Anemia, Diamond-Blackfan

• Successful transplantation of CD34+ selected peripheral blood stem cells from an unrelated donor in an adult patient with Diamond-Blackfan anemia and secondary hemochromatosis [25].
• CONCLUSION: CSA therapy should be tried in steroid-resistant Diamond-Blackfan anemia patients before blood transfusion or corticosteroid therapy complications are instituted [26].

References