SBDS protein expression patterns in the bone marrow

Trisha E. Wong, Monica L. Calicchio, Mark D. Fleming, Akiko Shimamura, Marian H. Harris

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

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,megakary ocytes, 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. Uniformly low SBDS protein expression levels distinguish the majority of SDS patients from controls or other marrow failure syndromes.

Original languageEnglish (US)
Pages (from-to)546-549
Number of pages4
JournalPediatric Blood and Cancer
Volume55
Issue number3
DOIs
StatePublished - Sep 1 2010

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Keywords

  • Bone marrow failure
  • Immunohistochemistry
  • Neutropenia
  • SBDS
  • Shwachman-Diamond syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

Wong, T. E., Calicchio, M. L., Fleming, M. D., Shimamura, A., & Harris, M. H. (2010). SBDS protein expression patterns in the bone marrow. Pediatric Blood and Cancer, 55(3), 546-549. https://doi.org/10.1002/pbc.22573