Autoinflammation Candidate Genes in Juvenile Idiopathic Arthritis

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Mukvich Olena
Mukvich Olena
2
Matskevych Anna²
Matskevych Anna²

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GJSFR Volume 22 Issue G2

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The objective of our study was to evaluate, in a population of Togolese People Living With HIV(PLWHIV), the agreement between three scores derived from the general population namely the Framingham score, the Systematic Coronary Risk Evaluation (SCORE), the evaluation of the cardiovascular risk (CVR) according to the World Health Organization.
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Juvenile idiopathic arthritis (JIA) is a heterogeneous pathology with uncertain causative factors and prognosis, stemming from an immune system dysfunction with the development of autoimmune reactions. The most distinctive and potentially most severe of these is systemic JIA (sJIA), a disease characterized by sharp rises in temperature and rash. A thorough understanding of the complex of immune regulatory mechanisms along with genetic analysis reveals complex relationships between autoimmune reactions and auto inflammation. Sequencing of 15 auto inflammatory genes was performed in 62 patients with JIA: 26 -oligoarthritis, 20 -polyarthritis, 16 -systemic. Studies have shown that 16 (25.8%) patients with the clinical JIA phenotype had changes in nucleotide sequence in the genes encoding auto inflammatory immune response proteins. NOD2 changes were in 12 (19.3%) of them and 1 change in each of the 4 patients NLRP12 (heterozygote, c.1343G> C (p.Gly448Ala)), MEFV (pathogenic heterozygous, c.2082G> A (p.Met694Ile)), ADA2 (heterozygote, c.145C> T). Arg49Trp)), PSTPIP1 (heterozygote, c.806T> A (p.Ile269A)) in the group of studied children with JIA. The study will allow identifying individual genetic loci of JIA risk, expand understanding of the pathogenesis and spectrum of phenotypic manifestations of the disease, improve diagnosis and prediction of its course, as well as reveal new opportunities for monitoring patients with JIA and their personalized therapy.

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The authors declare no conflict of interest.

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Mukvich Olena. 2026. \u201cAutoinflammation Candidate Genes in Juvenile Idiopathic Arthritis\u201d. Global Journal of Science Frontier Research - G: Bio-Tech & Genetics GJSFR-G Volume 22 (GJSFR Volume 22 Issue G2): .

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Auto inflammation juvenile idiopathic arthritis research study.
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GJSFR Volume 22 Issue G2
Pg. 85- 93
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Crossref Journal DOI 10.17406/GJSFR

Print ISSN 0975-5896

e-ISSN 2249-4626

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GJSFR-G Classification: DDC Code: 616.978 LCC Code: QR186
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v1.2

Issue date

December 28, 2022

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English

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Autoinflammation Candidate Genes in Juvenile Idiopathic Arthritis

Mukvich Olena
Mukvich Olena
Matskevych Anna²
Matskevych Anna²

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