Diamond-Blackfan Syndrome. II. In Vitro Corticosteroid Effect on Erythropoiesis

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Diamond-Blackfan Anemia: Promotion of Marrow Erythropoiesis In Vitro

To clarify the defective erythropoiesis in eight patients with Diamond-Blackfan anemia. we studied their bone marrow response in vitro to recombinant human interleukin-3 (11-3) and recombinant granulocyte-macrophage colony-stimulating factor (GM-CSF). In an erythropoietincontaining assay system. specimens from six of the eight patients yielded low numbers of erythroid colonies compared to contr...

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Diamond-Blackfan anemia: erythropoiesis lost in translation.

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least 4 genes are associated with DBA of which 2 have been identified so far. The known DBA genes encode the ribosomal proteins S19 and S24 accounting for 25% and 2% of the patients, respectively. Herein, we review possible links between ri...

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Diamond-Blackfan syndrome and neutropenia.

Neutropenia is a rare complication of Diamond-Blackfan syndrome (congenital hypoplastic anaemia). Three patients are reported: all had neutropenia as well as anaemia, and to investigate the cause of the neutropenia culture of bone marrow for granulocyte-macrophage colony forming cells (GMCFCs) was performed. Two cases had a low incidence of GMCFCs, but the third case had a high incidence. These...

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Diamond-Blackfan anemia: a congenital defect in erythropoiesis.

Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia diagnosed in the first year of life. Familiarity is apparent in 10% of patients, with all other cases being sporadic. Physical abnormalities are present in at least one third of patients, pointing to a defect in early embryo development. The main clinical sign is profound isolated anemia, with normal numbers and functioni...

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Diamond-Blackfan anemia: promotion of marrow erythropoiesis in vitro by recombinant interleukin-3.

To clarify the defective erythropoiesis in eight patients with Diamond-Blackfan anemia, we studied their bone marrow response in vitro to recombinant human interleukin-3 (IL-3) and recombinant granulocyte-macrophage colony-stimulating factor (GM-CSF). In an erythropoietin-containing assay system, specimens from six of the eight patients yielded low numbers of erythroid colonies compared to cont...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1982

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-198206000-00015