SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
Joint Authors
Tsinti, Maria
Germenis, Anastasios E.
Papadopoulou-Alataki, Efimia
Sevdali, Eirini
Tsitsami, Elena
Farmaki, Evangelia
Speletas, Matthaios
Source
Journal of Immunology Research
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-08-16
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Sevdali, Eirini& Tsitsami, Elena& Tsinti, Maria& Farmaki, Evangelia& Papadopoulou-Alataki, Efimia& Germenis, Anastasios E.…[et al.]. 2017. SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies. Journal of Immunology Research،Vol. 2017, no. 2017, pp.1-11.
https://search.emarefa.net/detail/BIM-1181573
Modern Language Association (MLA)
Sevdali, Eirini…[et al.]. SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies. Journal of Immunology Research No. 2017 (2017), pp.1-11.
https://search.emarefa.net/detail/BIM-1181573
American Medical Association (AMA)
Sevdali, Eirini& Tsitsami, Elena& Tsinti, Maria& Farmaki, Evangelia& Papadopoulou-Alataki, Efimia& Germenis, Anastasios E.…[et al.]. SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies. Journal of Immunology Research. 2017. Vol. 2017, no. 2017, pp.1-11.
https://search.emarefa.net/detail/BIM-1181573
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1181573