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Biology
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Autoimmune Diseases: Molecular and Cellular Mechanisms
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Autoimmune Diseases: Molecular and Cellular Mechanisms

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Biochemistry and Molecular Biology".

Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 3697

Special Issue Editors

Dr. Hassan Abolhassani

E-Mail Website
Guest Editor
Division of Clinical Immunology at the Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
Interests: immunogenetics; clinical immunology; immunotherapy; inborn errors of immunity; primary immunodeficiency
Dr. Gholamreza Azizi

E-Mail Website
Guest Editor
Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
Interests: autoimmunity; autoinflammation; immune related disorders

Special Issue Information

Dear Colleagues,

The concomitant incidence of immunodeficiency and autoimmunity in early-onset patients may represent a paradox, yet it has been documented in an expanding number of conditions. The use of unbiased molecular studies to identify novel forms of inborn errors of immunity, along with in-depth functional studies of biological samples from affected cases, continues to clarify the novel pathogenesis underlying immune dysregulation and autoinflammation in patients with an altered central or peripheral tolerance, and contributes to fighting pathogens. The genetic etiology of autoimmune disease has the power to dramatically transform patient treatment, shifting clinical care from non-specific therapies to targeted therapies. The late onset of autoimmune disease in adult cases suggests that multiple genetic and non-genetic factors, including epigenetic alterations, contribute to disease pathogenesis. In this Special Issue, we welcome the submission of original research and review articles related to this topic.

Dr. Hassan Abolhassani
Dr. Gholamreza Azizi
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. Biology 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 2700 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

  • autoimmunity
  • autoinflammation
  • immune dysregulation
  • inborn errors of immunity
  • primary immunodeficiency

Published Papers (2 papers)

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Research

14 pages, 1345 KiB  
Article
Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity
by Niusha Sharifinejad, Gholamreza Azizi, Seyed Erfan Rasouli, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Marzieh Tavakol, Homa Sadri, Mohammad Nabavi, Sareh Sadat Ebrahimi, Afshin Shirkani, Ahmad Vosughi Motlagh, Tooba Momen, Samin Sharafian, Mehrnaz Mesdaghi, Narges Eslami, Samaneh Delavari, Sasan Bahrami, Reza Yazdani, Nima Rezaei and Hassan Abolhassani
Biology 2023, 12(5), 644; https://doi.org/10.3390/biology12050644 - 24 Apr 2023
Viewed by 1504
Abstract
Cutaneous manifestations are one of the most common presentations among patients with inborn errors of immunity (IEI). These skin manifestations are often among the first presenting features in the majority of patients preceding the IEI diagnosis. We studied 521 available monogenic patients with [...] Read more.
Cutaneous manifestations are one of the most common presentations among patients with inborn errors of immunity (IEI). These skin manifestations are often among the first presenting features in the majority of patients preceding the IEI diagnosis. We studied 521 available monogenic patients with IEI listed in the Iranian IEI registry up to November 2022. We extracted each patient’s demographic information, detailed clinical history of cutaneous manifestations, and immunologic evaluations. The patients were then categorized and compared based on their phenotypical classifications provided by the International Union of Immunological Societies. Most patients were categorized into syndromic combined immunodeficiency (25.1%), non-syndromic combined immunodeficiency (24.4%), predominantly antibody deficiency (20.7%), and diseases of immune dysregulation (20.5%). In total, 227 patients developed skin manifestations at a median (IQR) age of 2.0 (0.5–5.2) years; a total of 66 (40.7%) of these patients initially presented with these manifestations. Patients with cutaneous involvement were generally older at the time of diagnosis [5.0 (1.6–8.0) vs. 3.0 (1.0–7.0) years; p = 0.022]. Consanguinity was more common among patients who developed skin disorders (81.4% vs. 65.2%, p < 0.001). The overall skin infection rate and the type of dominant pathogens were significantly different among the IEI patients in different phenotypical classifications (p < 0.001). Atopic presentation, including urticaria, was highly prevalent among patients with congenital defects of phagocytes (p = 0.020). The frequency of eczema was also significantly higher among cases with both syndromic and non-syndromic combined immunodeficiency (p = 0.009). In contrast, autoimmune cutaneous manifestations, including alopecia and psoriasis, were most common in patients with immune dysregulation (p = 0.001) and defects in intrinsic or innate immunity (p = 0.031), respectively. The presence of autoimmune cutaneous complications significantly improved the survival rate of IEI patients (p = 0.21). In conclusion, cutaneous manifestations were observed in nearly 44% of Iranian patients with monogenic IEI. A considerable number of patients with cutaneous involvements developed these disorders as their first manifestation of the disease, which was particularly noticeable in patients with non-syndromic combined immunodeficiency and phagocytic defects. The neglected skin disorders in IEI patients might delay diagnosis, which is generally established within a 3-year interval from the development of skin-related problems. Cutaneous disorders, especially autoimmune features, might indicate a mild prognosis in IEI patients. Full article
(This article belongs to the Special Issue Autoimmune Diseases: Molecular and Cellular Mechanisms)
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19 pages, 16779 KiB  
Article
Reduced Renal CSE/CBS/H2S Contributes to the Progress of Lupus Nephritis
by Xuan Wang, Tao Lin, Yifei He, Yueyuan Zhou, Yi Peng, Weiru Zhang and Xin Ni
Biology 2023, 12(2), 318; https://doi.org/10.3390/biology12020318 - 16 Feb 2023
Viewed by 1719
Abstract
The molecular mechanisms underlying lupus nephritis (LN) pathogenesis are not fully understood. Hydrogen sulfide (H2S) is involved in many pathological and physiological processes. We sought to investigate the roles of H2S in LN pathogenesis. H2S synthase cystathionine–lyase (CSE) and cystathionine–synthetase (CBS) expression was [...] Read more.
The molecular mechanisms underlying lupus nephritis (LN) pathogenesis are not fully understood. Hydrogen sulfide (H2S) is involved in many pathological and physiological processes. We sought to investigate the roles of H2S in LN pathogenesis. H2S synthase cystathionine–lyase (CSE) and cystathionine–synthetase (CBS) expression was downregulated in renal tissues of patients with LN and their levels were associated with LN’s prognosis using the Nephroseq database. Reduced CSE and CBS protein expression in kidney tissues of LN patients and MRL/lpr mice were confirmed by immunohistochemistry. CSE and CBS mRNA levels were reduced in MRL/lpr and pristine- and R848-induced lupus mice. Given that H2S exerts an anti-inflammatory role partly via regulating inflammatory transcription factors (TFs), we analyzed hub TFs by using a bioinformatics approach. It showed that STAT1, RELA, and T-cell-related signaling pathways were enriched in LN. Increased STAT1 and RELA expression were confirmed in renal tissues of LN patients. Treatment of MRL/lpr and pristine mice with H2S donors alleviated systemic lupus erythematosus (SLE) phenotypes and renal injury. H2S donors inhibited RELA level and T-cell infiltration in the kidneys of MRL/lpr and pristine mice. Our data indicated that CSE/CBS/H2S contributes to LN pathogenesis. Supplementation of H2S would be a potential therapeutic strategy for LN. Full article
(This article belongs to the Special Issue Autoimmune Diseases: Molecular and Cellular Mechanisms)
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