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Journal Article

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia


von Blume,  Julia
von Blume, Julia / Molecular Basis of Protein Trafficking, Max Planck Institute of Biochemistry, Max Planck Society;

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Boztug, K., Jaervinen, P. M., Salzer, E., Racek, T., Moench, S., Garncarz, W., et al. (2014). JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. NATURE GENETICS, 46(9), 1021-1027. doi:10.1038/ng.3069.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0023-FB6F-D
The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGN1-mutant granulocytes are characterized by ultrastructural defects, a paucity of granules, aberrant N-glycosylation of multiple proteins and increased incidence of apoptosis. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils.