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SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION

Known as: SPENCDI, SPENCD, ROIFMAN IMMUNOSKELETAL SYNDROME 
 
National Institutes of Health

Papers overview

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Review
2018
Review
2018
Objective: To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Methods… Expand
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2017
2017
BACKGROUND Pathogenic bacteria which chronically colonise the cystic fibrosis (CF) lung produce a number of virulence… Expand
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Review
2016
Review
2016
PurposeSpondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a… Expand
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2015
2015
Background Type I interferons (IFN) are secreted molecules that play a major role in the response to viral infection. However… Expand
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Review
2014
Review
2014
The Cl(-)/HCO(-) 3anion exchanger 2 (AE2) is known to be involved in intracellular pH (pHi) regulation and transepithelial acid… Expand
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Highly Cited
2011
Highly Cited
2011
  • Yanick J. Crow
  • Annals of the New York Academy of Sciences
  • 2011
  • Corpus ID: 22848664
The concept of grouping Mendelian disorders associated with an upregulation of type I interferon is not currently recognized in… Expand
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Review
2009
Review
2009
R-Synuclein (RSyn) is a small cytosolic protein of unknown function, which is highly enriched in the brain. It is genetically… Expand
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1988
1988
A mathematical model of cellular autoimmune process in exposed mammals was developed. In terms of this model a study was made of… Expand
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1946
1946
  • Nature
  • 1946
  • Corpus ID: 44994119
THE Rev. JofibJBfemisteed, who in 1675 became the first Astronomen Royal, was also from 1684 rector of Burstow, fiurrey, and at… Expand
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