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

Known as: SIFD 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal recessive inheritanceGlobal developmental delayHypogammaglobulinemiaIneffective erythropoiesis

Papers overview

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2020
2020
Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects
2020
2020
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).
2019
2019
Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change.
2018
2018
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors
Objectives To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described… 
2018
2018
Comment on: ‘Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors’ by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon…
We read with great interest the paper of Giannelou et al 1 reporting, for the first time, the efficacy of tumour necrosis factor… 
2018
2018
In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.
2017
2017
SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis
SIFD describes a heritable, syndromic condition characterised principally by sideroblastic anaemia (SA) with immunodeficiency… 
2017
2017
Driving mechanisms and streamwise homogeneity in molecular dynamics simulations of nanochannel flows
In molecular dynamics simulations, nanochannel flows are usually driven by a constant force, that aims to represent a pressure… 
2016
2016
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts
BackgroundSIFD (Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay) is a novel form of… 
2013
2013
immunodeficiency, periodic fevers, and developmental delay (SIFD) A novel syndrome of congenital sideroblastic anemia, B-cell
Hughes, Denise K. Bonney, Sylvia S. Bottomley, Mark D. Fleming and Robert F. Wynn Major-Cook, Caroline Kannengiesser, Isabelle… 
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