Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome

Eur J Haematol. 2015 Oct;95(4):308-15. doi: 10.1111/ejh.12490. Epub 2015 Feb 10.


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 < 0.001) were also evident in the bone marrow of patients.

Conclusions: On the basis of these observations, future prospective assessments may be useful to verify the contribution of bone marrow immunophenotype in the early identification of the evolution toward aplasia or myelodysplasia.

Keywords: Shwachman-Bodian-Diamond Syndrome (SBDS); flow cytometry; immunophenotyping; leukemia; stem cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Antigens, CD / metabolism
  • Bone Marrow / pathology
  • Bone Marrow Cells / metabolism
  • Bone Marrow Cells / pathology
  • Bone Marrow Diseases / diagnosis*
  • Bone Marrow Diseases / genetics
  • Bone Marrow Diseases / metabolism*
  • Case-Control Studies
  • Cell Differentiation
  • Cell Lineage
  • Child
  • Child, Preschool
  • Exocrine Pancreatic Insufficiency / diagnosis*
  • Exocrine Pancreatic Insufficiency / genetics
  • Exocrine Pancreatic Insufficiency / metabolism*
  • Female
  • Flow Cytometry
  • Hematopoiesis* / genetics
  • Hematopoietic Stem Cells / cytology
  • Hematopoietic Stem Cells / metabolism
  • Humans
  • Immunophenotyping*
  • Infant
  • Karyotype
  • Lipomatosis / diagnosis*
  • Lipomatosis / genetics
  • Lipomatosis / metabolism*
  • Male
  • Mutation
  • Shwachman-Diamond Syndrome
  • Young Adult


  • Antigens, CD

Supplementary concepts

  • Shwachman syndrome