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SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION

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

Related topics

Related topics

19 relations
ACP5 geneACP5 wt AlleleAutosomal recessive inheritanceImmune thrombocytopenic purpura

Broader (3)

Autoimmune DiseasesImmunologic Deficiency SyndromesOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
[Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review].
Objective: To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Methods… 
2017
2017
Bacterial proteases and haemostasis dysregulation in the CF lung.
Review
2016
Review
2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey… 
2015
2015
OP0007 Blood Interferon Signature as a Screening For Type I Interferonopathies in Children With Early-Onset SLE and Vasculopathy
Background Type I interferons (IFN) are secreted molecules that play a major role in the response to viral infection. However… 
Review
2013
Review
2013
Role of AE2 for pHi regulation in biliary epithelial cells
The Cl−/HCO−3anion exchanger 2 (AE2) is known to be involved in intracellular pH (pHi) regulation and transepithelial acid-base… 
Highly Cited
2011
Highly Cited
2011
Type I interferonopathies: a novel set of inborn errors of immunity
The concept of grouping Mendelian disorders associated with an upregulation of type I interferon is not currently recognized in… 
2009
2009
Evidence that α -Synuclein Does Not Inhibit Phospholipase D †
α -Synuclein ( α Syn) is a small cytosolic protein of unknown function, which is highly enriched in the brain. It is genetically… 
1988
1988
[A mathematical model of postradiation autoimmunity].
A mathematical model of cellular autoimmune process in exposed mammals was developed. In terms of this model a study was made of… 
1946
1946
Tercentenary of Flamsteed
THE Rev. JofibJBfemisteed, who in 1675 became the first Astronomen Royal, was also from 1684 rector of Burstow, fiurrey, and at… 
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