{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T19:17:16Z","timestamp":1758395836690,"version":"3.37.3"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Strategic Reference Framework"},{"DOI":"10.13039\/501100004895","name":"European Social Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004895","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Immunology Research"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>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 <jats:italic>SIAE<\/jats:italic> 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 <jats:italic>SIAE<\/jats:italic> 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 <jats:italic>SIAE<\/jats:italic> variants (p.Q343P, p.Y495X, and c.1320+33T&gt;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 <jats:italic>SIAE<\/jats:italic> defects. Our results show that <jats:italic>SIAE<\/jats:italic> rare variants are not causative of autoimmunity as single defects.<\/jats:p>","DOI":"10.1155\/2017\/1514294","type":"journal-article","created":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T17:02:04Z","timestamp":1502902924000},"page":"1-11","source":"Crossref","is-referenced-by-count":4,"title":["<i>SIAE<\/i> Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies"],"prefix":"10.1155","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9575-1987","authenticated-orcid":true,"given":"Eirini","family":"Sevdali","sequence":"first","affiliation":[{"name":"Department of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis 3, 415 00 Larissa, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Tsitsami","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology Unit, 1st Department of Pediatrics, Children\u2019s Hospital \u201cAghia Sophia\u201d, University of Athens, 115 27 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4617-0657","authenticated-orcid":true,"given":"Maria","family":"Tsinti","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology Unit, 1st Department of Pediatrics, Children\u2019s Hospital \u201cAghia Sophia\u201d, University of Athens, 115 27 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5132-8255","authenticated-orcid":true,"given":"Evangelia","family":"Farmaki","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, Hippokration General Hospital, Aristotle University of Thessaloniki, 546 42 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8861-5795","authenticated-orcid":true,"given":"Efimia","family":"Papadopoulou-Alataki","sequence":"additional","affiliation":[{"name":"Fourth Department of Pediatrics, General Regional Hospital Papageorgiou, Aristotle University of Thessaloniki, 564 03 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3315-6947","authenticated-orcid":true,"given":"Anastasios E.","family":"Germenis","sequence":"additional","affiliation":[{"name":"Department of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis 3, 415 00 Larissa, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1287-7734","authenticated-orcid":true,"given":"Matthaios","family":"Speletas","sequence":"additional","affiliation":[{"name":"Department of 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