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Article

SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.

Journal of immunology research - 1 Jan 2017

Sevdali Eirini, Tsitsami Elena, Tsinti Maria, Farmaki Evangelia, Papadopoulou-Alataki Efimia, Germenis Anastasios E, Speletas Matthaios

Abstract excerpt

Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare heterozygous loss-of-function mutations in SIAE gene in common autoimmune diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the distinct...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28900629
DOI: 10.1155/2017/1514294
PMCID: PMC5576406

Genes

SIAE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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