Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
10.5
5.2
Journals
Cells
Special Issues
Genetic and Cellular Basis of Autoimmune Diseases
share announcement

Genetic and Cellular Basis of Autoimmune Diseases

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Immunology".

Deadline for manuscript submissions: closed (30 November 2025) | Viewed by 7727

Special Issue Editor

Prof. Dr. Christian Sadik

E-Mail Website
Guest Editor
Department of Dermatology, Universität zu Lübeck, Lübeck, Germany
Interests: innate immunity; granulocytes; autoimmune diseases; skin inflammation; lipid mediators; Fcγ receptors
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Autoimmune diseases represent a significant and growing challenge to public health, affecting millions worldwide and contributing to considerable morbidity and mortality. In recent years, advances in genomic technologies and cellular biology have transformed our understanding of the intricate mechanisms underlying these diseases. High-throughput sequencing and genome-wide association studies (GWASs) have identified numerous genetic loci associated with autoimmune conditions, shedding light on the heritable components of these disorders. Concurrently, research into cellular pathways and immune responses has unveiled the roles of various immune cell types, including T cells, B cells, and innate immune cells, such as neutrophils and macrophages, in the pathogenesis of autoimmune diseases

This Special Issue aims to consolidate current knowledge on the genetic and cellular foundations of autoimmune diseases, highlighting recent discoveries and ongoing research. We invite contributions that explore the molecular mechanisms driving autoimmunity, the impact of genetic variations on immune function, and the interactions between genetic and environmental factors. By fostering a comprehensive understanding of these complex interactions, particularly the role of effector cells like neutrophils, we hope to pave the way for innovative therapeutic strategies and improved patient outcomes. In this Special Issue, we want to bring together leading experts in the field, showcasing diverse perspectives that underscore the importance of interdisciplinary collaboration in unraveling the complexities of autoimmune diseases.

Prof. Dr. Christian Sadik
Guest Editor

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 250 words) can be sent to the Editorial Office for assessment.

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. Cells is an international peer-reviewed open access semimonthly 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

  • autoimmune disease
  • break of tolerance
  • effector cells
  • immunodysregulation
  • risk genes

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (4 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review, Other

27 pages, 3096 KB  
Article
B Cells Can Trigger the T-Cell-Mediated Autoimmune Response Against Melanocytes in Psoriasis
by Mengwen He, Melissa Bernhardt, Akiko Arakawa, Song-Min Kim, Sigrid Vollmer, Burkard Summer, Yukiyasu Arakawa, Tatsushi Ishimoto, Andreas Schlosser and Jörg Christoph Prinz
Cells 2025, 14(24), 2002; https://doi.org/10.3390/cells14242002 - 16 Dec 2025
Viewed by 374
Abstract
Psoriasis vulgaris is a T-cell-mediated skin disease that may involve an autoimmune response against melanocytes. It develops through still unexplained pathomechanisms. Streptococcal tonsillopharyngitis is a major trigger of psoriasis onset and relapses. HLA-C*06:02 is the main psoriasis risk gene. Here we find that [...] Read more.
Psoriasis vulgaris is a T-cell-mediated skin disease that may involve an autoimmune response against melanocytes. It develops through still unexplained pathomechanisms. Streptococcal tonsillopharyngitis is a major trigger of psoriasis onset and relapses. HLA-C*06:02 is the main psoriasis risk gene. Here we find that B cells isolated from streptococci-infected tonsils or peripheral blood of HLA-C*06:02+ psoriasis patients stimulate an HLA-C*06:02-restricted melanocyte-reactive Vα3S1/Vβ13S1 T-cell receptor (TCR) from a lesional psoriatic CD8+ T cell clone in an IFN-γ-enhanced manner. Patients’ B cells furthermore induce proliferation of autologous blood CD8+ T cells. We identify several HLA-C*06:02-presented self-peptides in the immunopeptidomes we had isolated from four HLA-C*06:02 homozygous B-cell lines that stimulate the Vα3S1/Vβ13S1 TCR and differ from the melanocyte autoantigen recognized by this TCR. These data suggest that the proinflammatory environment of streptococcal tonsillopharyngitis may enable B cells to activate autoreactive CD8+ T cells that, owing to the polyspecificity of T-cell receptors, recognize several B-cell self-peptides presented by HLA-C*06:02 and subsequently cross-react against melanocytes in the skin, thereby triggering psoriasis. The capacity of B cells to stimulate a cross-reactive autoimmune response through HLA class I-presented B-cell peptides is a previously unknown mechanism in the induction of autoimmunity that could explain psoriasis onset and persistence. Full article
(This article belongs to the Special Issue Genetic and Cellular Basis of Autoimmune Diseases)
►▼ Show Figures

Graphical abstract

13 pages, 1705 KB  
Article
The Retinoid Tamibarotene Aggravates Skin Inflammation in a Model of Bullous Pemphigoid-like Epidermolysis Bullosa Acquisita
by Markus Thieme, Paul Schilf, Sripriya Murthy, Sina Gonther, Christoph M. Hammers, Guido Heine and Christian D. Sadik
Cells 2025, 14(21), 1661; https://doi.org/10.3390/cells14211661 - 23 Oct 2025
Viewed by 606
Abstract
Tamibarotene (AM80) is an agonist of retinoic acid receptor alpha. It is licensed in Japan for the treatment of acute promyelocytic leukemia. Results from preclinical models suggest that tamibarotene might also be effective in the treatment of diverse autoimmune diseases. The effect of [...] Read more.
Tamibarotene (AM80) is an agonist of retinoic acid receptor alpha. It is licensed in Japan for the treatment of acute promyelocytic leukemia. Results from preclinical models suggest that tamibarotene might also be effective in the treatment of diverse autoimmune diseases. The effect of tamibarotene on autoimmune diseases of the skin, however, has not been explored. We therefore examined the effect of tamibarotene on disease in the antibody-transfer mouse model of bullous pemphigoid (BP)-like epidermolysis bullosa acquisita (EBA), a prototypical example for pemphigoid diseases. Pemphigoid diseases are a group of autoimmune blistering skin diseases driven by autoantibodies and the recruitment and activity of granulocytes in the dermis. In sharp contrast to its effect in models of other autoimmune diseases, tamibarotene aggravated EBA pronouncedly. At the peak of disease, skin inflammation in tamibarotene-treated mice involved, on average, 1.6-fold more of the total body surface compared to vehicle-treated mice. Tamibarotene markedly reduced the recruitment of regulatory T cells (Tregs) into the dermis. This blunted the counterregulatory mechanisms that normally curb skin inflammation in this model. The effect aligns with previous reports describing tamibarotene-mediated downregulation of skin-homing receptors on Tregs. In addition, tamibarotene prolonged the responsiveness of aging neutrophils to immune complexes in vitro, providing another mechanism that may exacerbate EBA. Collectively, our results suggest that tamibarotene may elicit detrimental effects in patients with EBA by abolishing the recruitment of Tregs into skin. This warrants great caution when using tamibarotene in patients with EBA and possibly other pemphigoid diseases. Full article
(This article belongs to the Special Issue Genetic and Cellular Basis of Autoimmune Diseases)
►▼ Show Figures

Figure 1

Review

Jump to: Research, Other

29 pages, 912 KB  
Review
Chimeric Antigen Receptor T Cell Immunotherapy for Autoimmune Rheumatic Disorders: Where Are We Now?
by Panagiota Anyfanti, Paschalis Evangelidis, Nikolaos Kotsiou, Anna Papakonstantinou, Ioannis Eftychidis, Ioanna Sakellari, Theodoros Dimitroulas and Eleni Gavriilaki
Cells 2025, 14(16), 1242; https://doi.org/10.3390/cells14161242 - 12 Aug 2025
Cited by 5 | Viewed by 4839
Abstract
Chimeric antigen receptor (CAR) T cell immunotherapy has changed the landscape of B cell hematological malignancies’ management, while it has recently shown promising results in the treatment of refractory autoimmune rheumatic disorders (ARDs). Targeting B cell antigens such as CD19 and BCMA, CAR-T [...] Read more.
Chimeric antigen receptor (CAR) T cell immunotherapy has changed the landscape of B cell hematological malignancies’ management, while it has recently shown promising results in the treatment of refractory autoimmune rheumatic disorders (ARDs). Targeting B cell antigens such as CD19 and BCMA, CAR-T cell therapy can induce sustained remission by the elimination of autoreactive B cell populations resistant to the standard of care treatment options. Clinical data from case reports and small case series demonstrate profound clinical responses in ARDs, including systemic lupus erythematosus (SLE), systemic sclerosis (SSc), idiopathic inflammatory myopathies (IIMs), rheumatoid arthritis (RA), antiphospholipid syndrome (APS), and primary Sjögren’s syndrome (pSS). Treatment outcomes include reduced disease activity, normalization of serologic markers, improved organ function, and drug-free remission, even after B cell reconstitution. Additionally, toxicities, primarily limited to mild cytokine release syndrome (CRS), were generally manageable with supportive care. Encouraging preliminary results have led to the development of several ongoing clinical trials investigating CAR-T cell therapy across multiple ARDs and patient populations, including pediatric patients. This review summarizes the current clinical experience and provides a comprehensive overview of ongoing clinical trials exploring CAR-T cell immunotherapy for ARDs. Full article
(This article belongs to the Special Issue Genetic and Cellular Basis of Autoimmune Diseases)
►▼ Show Figures

Graphical abstract

Other

Jump to: Research, Review

9 pages, 6690 KB  
Brief Report
Dysregulation of T Follicular Helper and Regulatory Cells in IRF5-SLE Homozygous Risk Carriers and Systemic Lupus Erythematosus Patients
by Bharati Matta, Lydia Thomas, Vinay Sharma and Betsy J. Barnes
Cells 2025, 14(6), 454; https://doi.org/10.3390/cells14060454 - 19 Mar 2025
Cited by 1 | Viewed by 1403
Abstract
T follicular helper (Tfh) and T follicular regulatory cells (Tfr) are required for antibody production and are dysregulated in SLE. Genetic variants within or near interferon regulatory factor 5 (IRF5) are associated with SLE risk. We previously reported higher plasma cells [...] Read more.
T follicular helper (Tfh) and T follicular regulatory cells (Tfr) are required for antibody production and are dysregulated in SLE. Genetic variants within or near interferon regulatory factor 5 (IRF5) are associated with SLE risk. We previously reported higher plasma cells and autoantibodies in healthy IRF5-SLE homozygous risk carriers. Here, we report the dysregulation of circulating Tfh and Tfr in both SLE patients and presymptomatic IRF5-SLE homozygous risk carriers. Full article
(This article belongs to the Special Issue Genetic and Cellular Basis of Autoimmune Diseases)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-4
Back to TopTop