Ontology highlight
ABSTRACT:
SUBMITTER: Wong TE
PROVIDER: S-EPMC2913690 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Wong Trisha E TE Calicchio Monica L ML Fleming Mark D MD Shimamura Akiko A Harris Marian H MH
Pediatric blood & cancer 20100901 3
Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome caused by biallelic SBDS gene mutations. Here we examined SBDS protein levels in human bone marrow. SBDS protein expression was high in neutrophil progenitors, megakaryocytes, plasma cells, and osteoblasts. In contrast, SBDS protein levels were low in all hematopoietic cell lineages from patients harboring the common SBDS mutations. We conclude that SBDS protein levels vary widely between specific marrow lineages. Unif ...[more]