GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations.

• Authors: Maksim Klimiankou, Olga Klimenkova, Murat Uenalan, Alexander Zeidler, Sabine Mellor-Heineke, Siarhei Kandabarau, Julia Skokowa, Cornelia Zeidler, Karl Welte
• Journal: Blood (Blood) Vol. 126 Issue 15 Pg. 1865-7 (Oct 08 2015) ISSN: 1528-0020 [Electronic] United States
• PMID: 26324699 (Publication Type: Letter, Research Support, Non-U.S. Gov't)

Chemical References

• CSF3R protein, human
• Receptors, Colony-Stimulating Factor
• Granulocyte-Macrophage Colony-Stimulating Factor

Topics

• Alleles
• Granulocyte-Macrophage Colony-Stimulating Factor (therapeutic use)
• Granulocytes (cytology, drug effects)
• Heterozygote
• Humans
• Infant, Newborn
• Loss of Heterozygosity
• Mutation (genetics)
• Neutropenia (congenital, drug therapy, genetics)
• Prognosis
• Receptors, Colony-Stimulating Factor (genetics)