Abstract
Objectives: Shwachman-Diamond syndrome is a rare disorder characterized by exocrine pancreatic insufficiency, skeletal abnormalities, and bone marrow failure, with high risk of leukemic evolution. The aim of the study was the immunophenotypic characterization of bone marrow cells from patients with Shwachman-Diamond syndrome to assess the maturation pathway of blood progenitor cells and to identify the presence of recurrent abnormalities. Methods: Bone marrow samples from nineteen patients and eleven controls were analyzed by multiparameter flow cytometry. Results: We found a low frequency of CD34+ cells (P=0.0179) and myeloid progenitors (P=0.025), in the bone marrow of patients with Shwachman-Diamond syndrome as compared to the controls. A significant reduction in the percentage of granulocytes (P=0.002) and an increase of monocytes (P
Original language | English |
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Pages (from-to) | 308-315 |
Number of pages | 8 |
Journal | European Journal of Haematology |
Volume | 95 |
Issue number | 4 |
DOIs | |
Publication status | Published - Oct 1 2015 |
Keywords
- Flow cytometry
- Immunophenotyping
- Leukemia
- Shwachman-Bodian-Diamond Syndrome (SBDS)
- Stem cells
ASJC Scopus subject areas
- Hematology