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The human gene damage index as a gene-level approach to prioritizing exome variants
Significance The protein-coding exome of a patient with a monogenic disease contains about 20,000 variations, of which only one or two are disease causing. When attempting to select disease-causingExpand
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
The genetics underlying severe COVID-19 The immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). Individuals that lack specific IFNsExpand
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Inherited p40phox deficiency differs from classic chronic granulomatous disease
Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficientExpand
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Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
We report a molecular study of the two known patients with autosomal recessive, partial interferon-γ receptor (IFN-γR)2 deficiency (homozygous for mutations R114C and G227R), and three novel,Expand
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Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
Purpose Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients withExpand
Exome sequencing reveals gain-of-function mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients
Background: The transcription factor STAT1 plays a critical role in the immune response against mycobacterial, viral and fungal infections. Different mutations in STAT1 result in diverse clinicalExpand
Next generation sequencing identifies mutations in Colombian patients with primary immunodeficiency diseases
Background: The genetic etiology of several primary immunodeficiency diseases (PID) remains elusive. Next generation technologies represent a cost-effective and rapid first-line genetic approach forExpand
Novel mutations in NCF4 gene confer non-classic chronic granulomatous disease with disseminated histoplasmosis in a Colombian child
Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to early-onset life-threatening bacterial and fungal infections as well as dysregulatedExpand