Original paper
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
Abstract
Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein in humans (C17orf62), leads to reduced expression of NADPH oxidase’s main subunit (gp91 phox ) and results in CGD. Analyzing two brothers diagnosed with CGD we identify a homozygous loss-of-function...
Paper Details
Title
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
Published Date
Oct 25, 2018
Journal
Volume
9
Issue
1
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Notes
History