ACR Meeting Abstracts

ACR Meeting Abstracts

  • Home
  • Meetings Archive
    • ACR Convergence 2020
    • 2020 ACR/ARP PRSYM
    • 2019 ACR/ARP Annual Meeting
    • 2018 ACR/ARHP Annual Meeting
    • 2017 ACR/ARHP Annual Meeting
    • 2017 ACR/ARHP PRSYM
    • 2016-2009 Meetings
    • Download Abstracts
  • Keyword Index
  • Advanced Search
  • Your Favorites
    • Favorites
    • Login
    • Register
    • View and print all favorites
    • Clear all your favorites
  • Meeting Resource Center

Abstract Number: 112

The Molecular Genetic Analysis of the Autoinflammatory Syndromes in Russian Patients with Manifestation of Systemic Juvenile Idiopathic Arthritis

Ekaterina Alexeeva1, Alexander Baranov2, Kirill Savostyanov2, Alexander Pushkov2, Tatyana Sleptsova1, Tatyana Bzarova1, Saniya Valieva1, Rina Denisova1, Kseniya Isayeva1, Evgeniya Chistyakova1 and Chomahidze Alexandra1, 1Rheumatology, Scientific Center of Children's Health, Moscow, Russia, 2Scientific Center of Children's Health, Moscow, Russia

Meeting: 2015 ACR/ARHP Annual Meeting

Date of first publication: September 29, 2015

Keywords: Autoinflammatory Disease, DNA and Genetic Biomarkers

  • Tweet
  • Email
  • Print
Save to PDF
Session Information

Date: Sunday, November 8, 2015

Session Title: Genetics, Genomics and Proteomics Poster I

Session Type: ACR Poster Session A

Session Time: 9:00AM-11:00AM

Background/Purpose:

Group of monogenic autoinflammatory syndromes is characterized by recurrent episodes of fever and inflammation. 

Methods:

The study included 90 pts (37 boys, 63 girls) at the age from 1 to 17 y. (8.2 (4.7; 11.5) followed with a diagnosis of systemic JIA. The median age of disease onset was 3.0 (1.5; 5.1) y., disease duration – 4.4 (1.0; 7.6)y.

The commonest features were fever (100%), arthritis or arthragia (100%), rash (96%), hepato- and splenomegaly (96%), lymphadenopathy (94%), headache (62%), abdominal pain (58%), eye manifestations (21%). The patients were selected according to the clinical manifestations, with subsequent obligatory genetic counseling in the Department of Rheumatology of the Scientific Center for Children’s Health. Pts’ DNA was sequenced in all coding exons and intronic flanks of the TNFRSF1A and NLRP3 genes whose mutations cause autoinflammatory syndromes, TRAPS and CAPS, respectively. 

Results:

In 13/90 (14.4%) pts genetic autoinflammatory syndrome was established. In 10/13 pts, we found mutations in TNFRSF1A: in 8/10 pts – the most frequent mutations  c.362G>A (p.R92Q) located in exon 4 and associated with the mild progression of TRAPS. One TRAPS pt. had a frameshift mutation с.792delT (p.Lys265Serfs*87) in exon 9 of TNFRSF1A gene. Another pt. revealed a TNFRSF1A mutation known c.374G>A (C96Y).

The median age of disease onset was 5.1 years. A family history was present in 3 patients: 2 girls with R92Q variant and 1 – with C96Y mutation. 3 pts with symptomes of CAPS  identified mutations in NLRP3 gene. None of the mutations were previously described in the databases for mutations. One pt. with a clinical picture of the CINCA, had a  mutation c.796C>T (p.Leu266Phe) in exon 04  of  NLRP3 gene. 2 other pts had mutations c.2861C>T and c.2173C>A, respectively. Pts with c.2173C>A mutation has CINCA/NOMID phenotype and dramatic effect of canacinumab. In 7 (7.5%) pts we identified NLRP3 gene polymorphism c.2113C>A, associated with elevated levels of IL1.

Conclusion:

Our results suggests for a relatively frequent incidence of CAPS and TRAPS in Russian systemic JIA patients. The number of genetically confirmed patients with periodic fever syndromes in Russia is very low. In order to identify more patients in the future, it is important to organize educational programs for increasing the knowledge on these diseases, to establish a network for genetic testing of periodic fever syndromes and to carry out differential diagnoses.


Disclosure: E. Alexeeva, Roche Pharmaceuticals; Abbot; Pfizer; Bristol-Myers; Squibb;Centocor;Novartis, 2,merck sharp dohme;Abbot; Pfizer; Bristol-Myers; Squibb;Medac; Novartis, 8; A. Baranov, None; K. Savostyanov, None; A. Pushkov, None; T. Sleptsova, Novartis Pharmaceutical Corporation, UCB, Centocor, 2; T. Bzarova, Pfizer Inc, Centocor, 2; S. Valieva, Roche Pharmaceuticals, 2; R. Denisova, Pfizer Inc, Novartis, Centocor, Roche, UCB, 2; K. Isayeva, Novartis Pharmaceutical Corporation, Roche, 2; E. Chistyakova, None; C. Alexandra, None.

To cite this abstract in AMA style:

Alexeeva E, Baranov A, Savostyanov K, Pushkov A, Sleptsova T, Bzarova T, Valieva S, Denisova R, Isayeva K, Chistyakova E, Alexandra C. The Molecular Genetic Analysis of the Autoinflammatory Syndromes in Russian Patients with Manifestation of Systemic Juvenile Idiopathic Arthritis [abstract]. Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/the-molecular-genetic-analysis-of-the-autoinflammatory-syndromes-in-russian-patients-with-manifestation-of-systemic-juvenile-idiopathic-arthritis/. Accessed March 1, 2021.
  • Tweet
  • Email
  • Print
Save to PDF

« Back to 2015 ACR/ARHP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/the-molecular-genetic-analysis-of-the-autoinflammatory-syndromes-in-russian-patients-with-manifestation-of-systemic-juvenile-idiopathic-arthritis/

Advanced Search

Your Favorites

You can save and print a list of your favorite abstracts by clicking the “Favorite” button at the bottom of any abstract. View your favorites »

ACR Convergence: Where Rheumatology Meets. All Virtual. November 5-9.

ACR Pediatric Rheumatology Symposium 2020

© COPYRIGHT 2021 AMERICAN COLLEGE OF RHEUMATOLOGY

Wiley

  • Home
  • Meetings Archive
  • Advanced Search
  • Meeting Resource Center
  • Online Journal
  • Privacy Policy
  • Permissions Policies
loading Cancel
Post was not sent - check your email addresses!
Email check failed, please try again
Sorry, your blog cannot share posts by email.
This site uses cookies: Find out more.