Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic ana...

Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved SBDS gene. Here, we test the hypothesis that defective ribosome biogenesis underlies the pathogenesis of SDS. We create conditional mutants in the essential S...

Serum concentrations of C reactive protein were measured in a cross sectional study of 36 patients with cystic fibrosis and correlated with clinical and radiological assessments. C reactive protein concentration was highly correlated with the Shwachman clinical evaluation score, forced vital capacity as a percentage of the predicted value, and the Chrispin-Norman x ray score. C reactive protein...