SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY

Known as: SIFD 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2013-2018
012320132018

Papers overview

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2018
2018
SIFD describes a heritable, syndromic condition characterised principally by sideroblastic anaemia (SA) with immunodeficiency… (More)
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2018
2018
OBJECTIVES To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described… (More)
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2018
2018
Mutations in the human TRNT1 gene encoding tRNA nucleotidyltransferase (tRNA-NT), an essential enzyme responsible for addition of… (More)
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2016
2016
BACKGROUND SIFD (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) is a novel form of… (More)
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2016
2016
Retinitis pigmentosa (RP) is a highly heterogeneous group of disorders characterized by degeneration of the retinal photoreceptor… (More)
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2014
2014
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and… (More)
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2014
2014
In accordance, TRNT1 is essential for the tRNA maturation, and its reduced activity, as in other syndromic SA, is predicted to… (More)
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2013
2013
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid… (More)
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