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Regulation of Hematopoietic Stem Cells

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Updated: Jun 10, 2026

Database-guided Flow-cytometry for Evaluation of Bone Marrow Myeloid Cell Maturation

Database-guided Flow-cytometry for Evaluation of Bone Marrow Myeloid Cell Maturation

Published on: November 3, 2018

SBDS protein expression patterns in the bone marrow.

Trisha E Wong¹, Monica L Calicchio, Mark D Fleming

¹Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

Pediatric Blood & Cancer

|July 27, 2010

Summary

This summary is machine-generated.

Shwachman-Diamond syndrome (SDS) is a genetic disorder affecting bone marrow. SDS patients with common mutations show uniformly low SBDS protein levels across hematopoietic cells, distinguishing them from healthy individuals.

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Area of Science:

Hematology
Genetics
Molecular Biology

Background:

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure disorder.
It is caused by biallelic mutations in the SBDS gene.

Purpose of the Study:

To examine SBDS protein levels in human bone marrow.
To determine if SBDS protein levels can distinguish SDS patients from other conditions.

Main Methods:

Analysis of SBDS protein expression in various human bone marrow cell lineages.
Comparison of protein levels between SDS patients with common mutations and controls.

Main Results:

SBDS protein expression varied significantly across different bone marrow cell types.
High SBDS protein levels were observed in neutrophil progenitors, megakaryocytes, plasma cells, and osteoblasts.
Patients with common SBDS mutations consistently exhibited low SBDS protein levels in all hematopoietic lineages.

Conclusions:

SBDS protein levels display lineage-specific expression patterns in human bone marrow.
Uniformly low SBDS protein expression is a key indicator for diagnosing the majority of SDS patients.
This finding helps differentiate SDS from other bone marrow failure syndromes.