[Studies on the pathogenesis of congenital hypoplastic anemia (Diamond-Blackfan syndrome)].
CFU-E growth from fractionated bone marrow cells of five patients with Diamond Blackfan syndrome was studied. In all patients, CFU-E growth was reduced in mononuclear cell rich fraction. In two patients out of five, CFU-E growth was returned to normal by the depletion of E-rosette forming cells of monocytes from mononuclear cell rich fraction. In the patient whose CFU-E growth returned to normal by the depletion of E-rosette forming cells, cocultivation between bone marrow buffy coat cells and autologous bone marrow E-rosette forming cells resulted in a significant decrease of CFU-E growth, and there was a significant increase in CFU-E growth by the treatment of OKT 4. In other three patients out of five, there was no significant increase in CFU-E growth by the depletion of monocytes and/or E-rosette forming cells. It is concluded that immunologic causes such as cellular factors may play a role, at least in part, on the pathogenesis of Diamond-Blackfan syndrome.
D000741:Anemia, Aplastic / Q000097:blood / Q000151:congenital* / Q000209:etiology; D001772:Blood Cell Count; D002455:Cell Division; D003114:Colony-Forming Units Assay; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009000:Monocytes / Q000276:immunology; D012397:Rosette Formation; D013347:Subcellular Fractions; D013601:T-Lymphocytes / Q000276:immunology