Shwachman-Diamond Syndrome
Reports from University of Amsterdam describe recent advances in shwachman-diamond syndrome
Published in Hospital Business Week, April 26th, 2009
"Shwachman-Diamond syndrome is a hereditary disorder characterized by pancreatic insufficiency and bone marrow failure. Most Shwachman-Diamond syndrome patients have mutations in the SBDS gene located at chromosome 7 and suffer from recurrent infections, due to neutropenia in combination with impaired neutrophil chemotaxis. Currently,. the role of the actin cytoskeleton in Shwachman-Diamond syndrome neutrophils has not been investigated," investigators in Netherlands report.
"Therefore, we performed immunofluorescence for SBDS and F-actin on human neutrophilic cells. Additionally, we examined in control neutrophils and cells from genetically defined Shwachman-Diamond...
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