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Journal of Immunology Research
Volume 2017, Article ID 1514294, 11 pages
Research Article

SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies

1Department of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis 3, 415 00 Larissa, Greece
2Pediatric Rheumatology Unit, 1st Department of Pediatrics, Children’s Hospital “Aghia Sophia”, University of Athens, 115 27 Athens, Greece
3First Department of Pediatrics, Hippokration General Hospital, Aristotle University of Thessaloniki, 546 42 Thessaloniki, Greece
4Fourth Department of Pediatrics, General Regional Hospital Papageorgiou, Aristotle University of Thessaloniki, 564 03 Thessaloniki, Greece

Correspondence should be addressed to Matthaios Speletas; rg.htu.dem@lepsam

Received 20 April 2017; Accepted 18 July 2017; Published 16 August 2017

Academic Editor: Paola Nistico

Copyright © 2017 Eirini Sevdali et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 pathogenesis of the two main subtypes of JIA, autoinflammatory systemic (sJIA) and autoimmune oligo/polyarticular (aJIA), and a predisposition to autoimmunity displayed by patients and families with primary antibody deficiencies (PADs), the aim of our study was to analyze whether SIAE rare variants are associated with both the phenotype of JIA and the autoimmunity risk in families with PADs. A cohort of 69 patients with JIA, 117 healthy children, 54 patients, and family members with PADs were enrolled in the study. Three novel SIAE variants (p.Q343P, p.Y495X, and c.1320+33T>C) were found only in patients with aJIA but interestingly also in their healthy relatives without autoimmunity, while none of PAD patients or their relatives carried SIAE defects. Our results show that SIAE rare variants are not causative of autoimmunity as single defects.