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Biomedicines
Special Issues
Molecular Mechanisms and Treatment of Rheumatic Diseases
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Molecular Mechanisms and Treatment of Rheumatic Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 113

Special Issue Editors

Prof. Dr. Ruxandra Ionescu

E-Mail Website
Guest Editor
Department of Internal Medicine and Rheumatology, Universitatea de Medicina si Farmacie Carol Davila din Bucuresti, Bucharest, Romania
Interests: immune-mediated rheumatic diseases
Dr. Daniela Opris-Belinski

E-Mail Website
Guest Editor
Department of Internal Medicine and Rheumatology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania
Interests: autoimmune disorders; inflammatory diseases; biologicals; connective tissue disorders; spondyloarthitis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It gives us great pleasure and excitement to announce the opening of the submission of articles for the Special Issue "Molecular Mechanisms and Treatment of Rheumatic Diseases". Since the beginning of the 2000s, we have been witnessing a revolution in the therapeutic approach to rheumatological diseases both in terms of the standardization of the treatment with the appearance and regular updating of treatment guidelines, as well as the monitoring modality and the established therapeutic targets. This was possible due to an increasingly deeper understanding of the molecular mechanisms underlying the occurrence of these diseases. However, despite the absolute advance of knowledge, there are still many gray areas and unfulfilled needs. Our goal is to stimulate research and clinical interest in this field, which, due to its complexity, lends itself so much to a multidisciplinary approach. This is the reason why we hope that we will be able to publish original articles with an impact on the prognosis of rheumatic patients.

We welcome the submission of original research and review articles on the following topics:

  • Diagnostic tools;
  • Clinical and immunological correlations;
  • Therapeutic challenges;
  • Risk stratification;
  • Achieving goals in management and treatment;
  • Old and new therapeutic targets;
  • Comorbidities (diagnosis, correlations, and management).

Prof. Dr. Ruxandra Ionescu
Dr. Daniela Opris-Belinski
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rheumatology
  • immune-mediated rheumatic diseases
  • biologics
  • DMARDs
  • arthritis
  • lupus
  • vasculitis
  • spondyloarthritis
  • targets

Published Papers (1 paper)

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Research

11 pages, 407 KiB  
Article
IFN-I Score and Rare Genetic Variants in Children with Systemic Lupus Erythematosus
by Rinat K. Raupov, Evgeny N. Suspitsin, Elvira M. Kalashnikova, Lubov S. Sorokina, Tatiana E. Burtseva, Vera M. Argunova, Rimma S. Mulkidzhan, Anastasia V. Tumakova and Mikhail M. Kostik
Biomedicines 2024, 12(6), 1244; https://doi.org/10.3390/biomedicines12061244 - 3 Jun 2024
Abstract
Introduction: Interferon I (IFN I) signaling hyperactivation is considered one of the most important pathogenetic mechanisms in systemic lupus erythematosus (SLE). Early manifestation and more severe SLE courses in children suggest a stronger genetic influence in childhood-onset SLE (cSLE). Aim: To evaluate IFN-I [...] Read more.
Introduction: Interferon I (IFN I) signaling hyperactivation is considered one of the most important pathogenetic mechanisms in systemic lupus erythematosus (SLE). Early manifestation and more severe SLE courses in children suggest a stronger genetic influence in childhood-onset SLE (cSLE). Aim: To evaluate IFN-I score and SLE-associated genetic variants in cSLE. Material and Methods: 80 patients with cSLE were included in the study. IFN I-score was assessed by real-time PCR quantitation of 5 IFN I-regulated transcripts (IFI44L, IFI44, IFIT3, LY6E, MXA1) in 60 patients. Clinical exome sequencing (CES) was performed in 51 patients. Whole-exome sequencing was performed in 32 patients with negative results of CES. Results: 46/60 patients (77%) had elevated IFN-I scores. Leucopenia and skin involvement were associated with over-expression of IFI44 and IFI44L, while hypocomplementemia—with hyperactivation of IFIT3, LY6E, and MX1. No correlation of IFN-I score with disease activity was found. At least one rare genetic variant, potentially associated with SLE, was found in 29 (56.9%) patients. The frequency of any SLE-genetic variants in patients with increased IFN scores was 84%, in patients with normal IFN scores—33%, and in the group whose IFN score was not assessed was 65% (p = 0.040). The majority of genetic variants (74%) are functionally related to nucleic acid sensing and IFN-signaling. The highest frequency of genetic variants was observed in Sakha patients (9/14; 64.3%); three and two unrelated patients had identical variants in PTPN22 and TREX1 genes, respectively. Conclusions: More than half of patients with childhood-onset SLE have rare variants in SLE-associated genes. The IFN-I score could be considered a tool for the selection of patients for further genetic assessment in whom monogenic lupus is suspected. Full article
(This article belongs to the Special Issue Molecular Mechanisms and Treatment of Rheumatic Diseases)
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