A patient had SBDS splice variants confirmed to be in the compound heterozygous state, which is associated with Shwachman-Diamond syndrome, a bone marrow failure syndrome characterized by a defect in ribosome biogenesis, resulting in decreased proliferation capability and cytopenias that create a selective advantage for somatic mutations that increase proliferation5,27. The gene discussed is SBDS; the disease is Shwachman-Diamond syndrome.