JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital 
neutropenia

Boztug, Kaan; Jaervinen, Paeivi M.; Salzer, Elisabeth; Racek, Tomas; Moench, Sebastian; Garncarz, Wojciech; Gertz, E. Michael; Schaeffer, Alejandro A.; Antonopoulos, Aristotelis; Haslam, Stuart M.; Schieck, Lena; Puchalka, Jacek; Diestelhorst, Jana; Appaswamy, Giridharan; Lescoeur, Brigitte; Giambruno, Roberto; Bigenzahn, Johannes W.; Elling, Ulrich; Pfeifer, Dietmar; Conde, Cecilia Dominguez; Albert, Michael H.; Welte, Karl; Brandes, Gudrun; Sherkat, Roya; ten Bosch, Jutte van der Werff; Rezaei, Nima; Etzioni, Amos; Bellanne-Chantelot, Christine; Superti-Furga, Giulio; Penninger, Josef M.; Bennett, Keiryn L.; von Blume, Julia; Dell, Anne; Donadieu, Jean; Klein, Christoph

doi:10.1038/ng.3069

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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

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

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Citation

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

Abstract

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.