Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia

The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of patients. SEC61A1 encodes the α-subunit of the Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mutations in SEC61A1 were reported to be pathogenic in com...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2020-11, Vol.146 (5), p.1180-1193
Hauptverfasser:	Van Nieuwenhove, Erika, Barber, John S., Neumann, Julika, Smeets, Elien, Willemsen, Mathijs, Pasciuto, Emanuela, Prezzemolo, Teresa, Lagou, Vasiliki, Seldeslachts, Laura, Malengier-Devlies, Bert, Metzemaekers, Mieke, Haßdenteufel, Sarah, Kerstens, Axelle, van der Kant, Rob, Rousseau, Frederic, Schymkowitz, Joost, Di Marino, Daniele, Lang, Sven, Zimmermann, Richard, Schlenner, Susan, Munck, Sebastian, Proost, Paul, Matthys, Patrick, Devalck, Christine, Boeckx, Nancy, Claessens, Frank, Wouters, Carine, Humblet-Baron, Stephanie, Meyts, Isabelle, Liston, Adrian
Format:	Artikel
Sprache:	eng
Schlagworte:	Antigens, CD34 - metabolism Chromosome Disorders Congenital Bone Marrow Failure Syndromes - genetics endoplasmic reticulum stress Female Genes, Dominant HL-60 Cells Humans Mutation - genetics Neutropenia - congenital Neutropenia - genetics Neutrophils - physiology Pedigree SEC Translocation Channels - genetics SEC61A1 Severe congenital neutropenia Single-Cell Analysis Translational and Clinical Immunology unfolded protein response Unfolded Protein Response - genetics Whole Exome Sequencing Young Adult
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