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Immune function in patients with Shwachman-Diamond syndrome.
1Division of Haematology and Oncology, The Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. yigal.dror@sickkids.on.ca
British Journal of Haematology
|September 13, 2001
Summary
Shwachman-Diamond syndrome (SDS) involves immune deficiencies, increasing infection risk. This study reveals significant B-cell, T-cell, and natural killer cell defects, broadening the syndrome definition.
Area of Science:
- Immunology
- Genetics
- Hematology
Background:
- Shwachman-Diamond syndrome (SDS) is an inherited disorder with pancreatic dysfunction and cytopenias.
- Immunological abnormalities are frequently observed in SDS patients.
- The extent of immune compromise in SDS requires further clarification.
Purpose of the Study:
- To prospectively assess immune function in patients with Shwachman-Diamond syndrome.
- To identify specific immune defects contributing to infections in SDS.
- To broaden the understanding of SDS pathophysiology.
Main Methods:
- Prospective study of immune function in 11 SDS patients.
- Evaluation of B-cell, T-cell, natural killer cell populations and function.
- Assessment of neutrophil chemotaxis and antibody production.
Main Results:
- All patients exhibited neutropenia and impaired neutrophil chemotaxis.
- Nine patients showed B-cell defects, including low immunoglobulins and impaired proliferation.
- Seven patients had T-cell abnormalities, and five had reduced natural killer cells.
Conclusions:
- Shwachman-Diamond syndrome presents a significant immunodeficiency component.
- Immune defects heighten the risk of bacterial and viral infections in SDS.
- The SDS defect may originate in early hematopoietic-lymphoid stem cells or combined marrow-thymic defects.