Dyskeratosis congenita with hypoplastic anemia: a stem cell defect.
A case of dyskeratosis congenita (DC) with pancytopenia was studied in an attempt to elucidate the cause of the hypocellular bone marrow and pancytopenia. Levels of erythroid hemopoietic stem cells were estimated by clonal cell culture. Results showed a decrease in the number of precursor cells in both the bone marrow and the peripheral blood of this patient.
D000328:Adult; D000741:Anemia, Aplastic / Q000150:complications* / Q000473:pathology; D006412:Hematopoietic Stem Cells / Q000473:pathology*; D006801:Humans; D008297:Male; D009260:Nail Diseases / Q000151:congenital / Q000473:pathology; D010198:Pancytopenia / Q000150:complications* / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital* / Q000473:pathology