SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
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 diseas...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Journal of Immunology Research |
| Online Access: | http://dx.doi.org/10.1155/2017/1514294 |
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| author | Eirini Sevdali Elena Tsitsami Maria Tsinti Evangelia Farmaki Efimia Papadopoulou-Alataki Anastasios E. Germenis Matthaios Speletas |
| author_facet | Eirini Sevdali Elena Tsitsami Maria Tsinti Evangelia Farmaki Efimia Papadopoulou-Alataki Anastasios E. Germenis Matthaios Speletas |
| author_sort | Eirini Sevdali |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-04d5ea145ca74e94ae822dbacd4b3f85 |
| institution | Kabale University |
| issn | 2314-8861 2314-7156 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Immunology Research |
| spelling | doaj-art-04d5ea145ca74e94ae822dbacd4b3f852025-02-03T01:03:29ZengWileyJournal of Immunology Research2314-88612314-71562017-01-01201710.1155/2017/15142941514294SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody DeficienciesEirini Sevdali0Elena Tsitsami1Maria Tsinti2Evangelia Farmaki3Efimia Papadopoulou-Alataki4Anastasios E. Germenis5Matthaios Speletas6Department of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis 3, 415 00 Larissa, GreecePediatric Rheumatology Unit, 1st Department of Pediatrics, Children’s Hospital “Aghia Sophia”, University of Athens, 115 27 Athens, GreecePediatric Rheumatology Unit, 1st Department of Pediatrics, Children’s Hospital “Aghia Sophia”, University of Athens, 115 27 Athens, GreeceFirst Department of Pediatrics, Hippokration General Hospital, Aristotle University of Thessaloniki, 546 42 Thessaloniki, GreeceFourth Department of Pediatrics, General Regional Hospital Papageorgiou, Aristotle University of Thessaloniki, 564 03 Thessaloniki, GreeceDepartment of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis 3, 415 00 Larissa, GreeceDepartment of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis 3, 415 00 Larissa, GreeceSialic 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.http://dx.doi.org/10.1155/2017/1514294 |
| spellingShingle | Eirini Sevdali Elena Tsitsami Maria Tsinti Evangelia Farmaki Efimia Papadopoulou-Alataki Anastasios E. Germenis Matthaios Speletas SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies Journal of Immunology Research |
| title | SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies |
| title_full | SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies |
| title_fullStr | SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies |
| title_full_unstemmed | SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies |
| title_short | SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies |
| title_sort | siae rare variants in juvenile idiopathic arthritis and primary antibody deficiencies |
| url | http://dx.doi.org/10.1155/2017/1514294 |
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