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

doi:10.1016/j.jaci.2020.03.034

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Article

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

The Journal of allergy and clinical immunology - 1 Nov 2020

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

Abstract excerpt

BACKGROUND: 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 common variable immunodeficiency and glomerulocystic kidney disease. OBJECTIVE: Our aim was to expand the...

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Identifiers

PMID: 32325141
DOI: 10.1016/j.jaci.2020.03.034
PMCID: PMC7649975

Genes

SEC61A1
CD34

Variants

Provenance

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