Τίτλος:
SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2017 Eirini Sevdali et al.
Συγγραφείς:
Sevdali, E.
Tsitsami, E.
Tsinti, M.
Farmaki, E.
Papadopoulou-Alataki, E.
Germenis, A.E.
Speletas, M.
Περιοδικό:
Journal of Immunology Research
Λέξεις-κλειδιά:
acetylesterase; antinuclear antibody; sialic acid acetylesterase; unclassified drug; acetylesterase; sialate O-acetylesterase, adult; Article; autoimmunity; carboxy terminal sequence; child; cohort analysis; comparative study; controlled study; disease predisposition; exon; female; genetic variability; human; humoral immune deficiency; intron; juvenile rheumatoid arthritis; major clinical study; male; middle aged; nucleotide sequence; pathogenesis; phenotype; polymerase chain reaction; primary antibody deficiency; school child; young adult; adolescent; allele; case control study; enzymology; genetic predisposition; genetic variation; genetics; genotype; immune deficiency; immunology; juvenile rheumatoid arthritis; metabolism; mutation; preschool child; single nucleotide polymorphism, Acetylesterase; Adolescent; Alleles; Arthritis, Juvenile; Autoimmunity; Case-Control Studies; Child; Child, Preschool; Cohort Studies; Female; Genetic Predisposition to Disease; Genetic Variation; Genotype; Humans; Immunologic Deficiency Syndromes; Male; Mutation; Polymorphism, Single Nucleotide
DOI:
10.1155/2017/1514294
