Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome
characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities …

Neutropenia is a hematological condition characterized by a decrease in absolute
neutrophil count (ANC) in peripheral blood, typically classified in adults as mild (1-1.5× 10 …

Defective ribosome biogenesis (RiBi) underlies a group of clinically diverse human diseases
collectively known as the ribosomopathies, core manifestations of which include cytopenias …

Shwachman-Diamond syndrome (SDS) is an autosomal recessive inherited disorder
caused by biallelic mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene …

Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive genetic disease, the
diagnosis is a big challenge for clinician, as the clinical manifestations of the disease are …

背景Shwachman-Diamond 综合征(SDS) 主要表现为骨髓衰竭, 胰腺外分泌功能不全,
骨骼异常三联征. 约90% SDS 患儿为SBDS 基因突变, EFL1, DNAJC21, SRP54 …

Shwachman-Diamond syndrome (SDS) is a rare multisystem disorder characterized by
exocrine pancreatic dysfunction and hematologic abnormalities [1-3]. The phenotypic …

Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities
are the three clinical characteristics of the rare inherited bone marrow failure syndrome …

We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting
with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities …

The medical community generally identified a rising amount of patients with primary immune
deficiency (PID) and cardiovascular system (CVS) comorbidities last year. These CVS …