SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
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منابع مشابه
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 diseases, including juvenile idiopathic arthritis (JIA), yielded inconsistent results. Considering the ...
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Background: A common type of chronic arthritis in children and adolescents is juvenile idiopathic arthritis (JIA).According to the International League of Associations for Rheumatology (ILAR) classification, JIA diagnostic criteria include age under 16 years and disease duration of six-weeks. Based on the number of involved joints in the first sixmonths of disease onset, JIA is categorized into...
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Background Multicentric carpotarsal osteolysis (MCTO), a skeletal dysplasia presents in early childhood mimicking juvenile idiopathic arthritis (JIA). Recognition of this syndrome is essential to avoid unnecessary treatment with immunosuppressive agents because of different course and treatment. Case Report A 3-year-old boy presented with swelling and restriction of right wrist joint and left ...
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Introduction SIAE is involved in the maintenance of immunological tolerance through negative regulation of Β-cell receptor (BCR) signaling. Recent evidences, though conflicting, indicate that rare loss-of-function SIAE variants are associated with susceptibility to various autoimmune diseases. Advances in understanding JIA pathophysiology have led to the consensus that systemic JIA (SJIA) is an...
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Introduction Juvenile Idiopathic Arthritis (JIA) is the most common form of chronic arthritis in children. JIA is characterized by onset of disease before the age of 16, with arthritis lasting >6 weeks, and with an unknown cause. Among JIA, seven sub-groups based on clinical and biological features have been individualized namely: systemic arthritis (sJIA) with autoinflammatory conditions, pers...
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ژورنال
عنوان ژورنال: Journal of Immunology Research
سال: 2017
ISSN: 2314-8861,2314-7156
DOI: 10.1155/2017/1514294