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Genetic Aspects of Autoimmune Diseases
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Genetic Aspects of Autoimmune Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 10 October 2026 | Viewed by 2896

Special Issue Editor

Dr. Cheuk Wun Li

E-Mail Website
Guest Editor
The Fleischer Institute for Diabetes and Metabolism, Department of Medicine, Albert Einstein College of Medicine, Bronx, NY, USA
Interests: autoimmune diseases; thyroid autoimmunity; genetics; genetic variants; polygenic; therapies

Special Issue Information

Dear Colleagues,

Autoimmune diseases (ADs) result from the complex interaction of genetic susceptibility factors, environmental triggers and epigenetic interactions, leading to the breakdown of immune tolerance. Individuals with a family history of AD are at higher risk of developing autoimmune conditions, implicating that genetic factors play a significant role in the development of AD. Genes such as the Human Leukocyte Antigen are among the first genes identified to be strongly linked to AD. Understanding how genetics contribute to the development of AD, including genetic predisposition and the polygenic basis of AD, will shed light on disease etiology and lead to development of targeted therapies.

The main objective of this Special Issue is to provide an update on the discovery of genetic variants and polygenic basis nature of AD, as well as relevant genetic studies that may lead to precision medicine approaches to treat AD.

Authors are invited to submit original research and/or systematic review articles.

Dr. Cheuk Wun Li
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. Genes 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

  • autoimmune diseases
  • genetics
  • genetic variants
  • polygenic
  • therapies

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Published Papers (4 papers)

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Research

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8 pages, 447 KB  
Article
CASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP)
by Anna Pau, Federico Rondot, Stefano Gambarino, Anna Clemente, Cristina Calvi, Paola Montanari, Ilaria Galliano and Massimiliano Bergallo
Genes 2026, 17(2), 206; https://doi.org/10.3390/genes17020206 - 9 Feb 2026
Viewed by 401
Abstract
Background: Fas/FasL-mediated apoptosis is central to immune homeostasis and is implicated in autoimmune lymphoproliferative syndrome (ALPS) and immune thrombocytopenia (ITP). We aimed to compare whole-blood transcriptional levels of CASP8 and CASP3 across ALPS, chronic ITP, and healthy controls. Methods: CASP8 and CASP3 mRNA [...] Read more.
Background: Fas/FasL-mediated apoptosis is central to immune homeostasis and is implicated in autoimmune lymphoproliferative syndrome (ALPS) and immune thrombocytopenia (ITP). We aimed to compare whole-blood transcriptional levels of CASP8 and CASP3 across ALPS, chronic ITP, and healthy controls. Methods: CASP8 and CASP3 mRNA expression was quantified by real-time PCR in whole blood from clinically diagnosed ALPS patients, chronic ITP patients, and healthy controls. Results: CASP8 mRNA expression was significantly increased in ALPS and ITP versus controls (p = 0.0009 and p < 0.0001, respectively) and was lower in ALPS than in ITP (p = 0.0265). CASP3 mRNA was also increased in both patient groups versus controls (ALPS: p = 0.0045; ITP: p < 0.0001), with no significant difference between ALPS and ITP (p = 0.1692). Conclusions: ALPS and chronic ITP show distinct CASP8 transcriptional patterns and a shared upregulation of CASP3 at the whole-blood mRNA level. These findings are descriptive and do not directly assess caspase activation or apoptotic pathway activity; further protein- and cell subset-based studies are needed to clarify functional implications. Full article
(This article belongs to the Special Issue Genetic Aspects of Autoimmune Diseases)
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14 pages, 2015 KB  
Article
Using HLA-DR3-CBA/J Humanized Mice to Develop a Novel Genetic Model for Autoimmune Thyroiditis
by Aizhan Kozhakhmetova, Mihaela Stefan-Lifshitz, Olga Meshcheryakova and Yaron Tomer
Genes 2026, 17(2), 170; https://doi.org/10.3390/genes17020170 - 31 Jan 2026
Viewed by 592
Abstract
Background: Experimental autoimmune thyroiditis is an important animal model for studying Hashimoto’s thyroiditis. Our aim was to develop the model using CBA/J-DR3 mice expressing human HLA-DR3, which is associated with autoimmune thyroiditis in humans, to better simulate human autoimmune thyroiditis. Such a humanized [...] Read more.
Background: Experimental autoimmune thyroiditis is an important animal model for studying Hashimoto’s thyroiditis. Our aim was to develop the model using CBA/J-DR3 mice expressing human HLA-DR3, which is associated with autoimmune thyroiditis in humans, to better simulate human autoimmune thyroiditis. Such a humanized model can be used to test specific antigen therapies for autoimmune thyroiditis. Methods: CBA/J-DR3 mice were produced by back-crossing B6-DR3 mice to the CBA/J background. Female CBA/J-DR3 mice were immunized with human thyroglobulin (Tg) in complete Freund’s adjuvant on days 0 and 7. On day 21, mice were sacrificed, blood collected, spleen and thyroid harvested for analysis. Splenocytes were analyzed for T cell responses to Tg and its major T-cell epitope in human autoimmune thyroiditis, Tg.2098. Serum anti-thyroglobulin antibodies were measured by ELISA, and thyroid-stimulating hormone was measured using the Luminex assay. Thyroid histology and immunohistochemistry were examined. Results: Immunized CBA/J-DR3 mice showed significant T cell proliferation in response to Tg (stimulation index 3.4 ± 4.5) and Tg.2098 (1.5 ± 0.7). Anti-thyroglobulin antibody levels were elevated in immunized mice when compared to control mice (2.05 ± 0.75 vs. 0.15 ± 0.06, p < 0.0001). T cells demonstrated higher reactivity to thyroid antigens by enhanced production of pro-inflammatory cytokines. Thyroid immunohistochemistry revealed mild CD3-positive T-cell infiltration. Conclusions: This novel humanized CBA/J-DR3 mouse model of Hashimoto’s thyroiditis demonstrates key features of human autoimmune thyroiditis. The HLA-DR3 background and the immune response to Tg and Tg.2098 enhance translational relevance, making this a valuable model for studying thyroid disease pathogenesis and testing targeted immune-modifying therapies. Full article
(This article belongs to the Special Issue Genetic Aspects of Autoimmune Diseases)
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17 pages, 988 KB  
Article
Polygenic Risk and Linked Metabolic Profile in Systemic Lupus Erythematosus: Cross-Sectional Insights
by Andrea Higuera-Gómez, María Martínez-Urbistondo, Amanda Cuevas-Sierra, Begoña de Cuevillas, Ulises De la Cruz-Mosso, Carolina F. Nicoletti, Jhulia C. N. L. da Mota, Susana Mellor-Pita, Marta Alonso-Bernáldez, Barbara Vizmanos and J. Alfredo Martínez
Genes 2026, 17(1), 53; https://doi.org/10.3390/genes17010053 - 1 Jan 2026
Viewed by 1006
Abstract
Background/Objectives: Systemic lupus erythematosus (SLE) is a complex autoimmune disease with a multifactorial origin involving genetic, epigenetic, and environmental determinants as well as some risk factors. Genetic predisposition has been quantified through polygenic risk scores (PRS), which integrate the cumulative effect of [...] Read more.
Background/Objectives: Systemic lupus erythematosus (SLE) is a complex autoimmune disease with a multifactorial origin involving genetic, epigenetic, and environmental determinants as well as some risk factors. Genetic predisposition has been quantified through polygenic risk scores (PRS), which integrate the cumulative effect of multiple single nucleotide variants (SNVs) associated with disease risk. Despite extensive research on immune and inflammatory pathways in SLE, the interplay between genetic susceptibility and metabolic dysfunction remains poorly understood. This study aimed to explore associations between SLE-related PRS and metabolic, inflammatory, and clinical parameters in adults participating in the METAINFLAMACIÓN-CM project (Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain). Methods: Ninety-three participants were included: 56 SLE patients and 37 individuals with metabolic syndrome (MetS) as a reference group. PRS were computed based on validated lupus-associated SNVs. Results: SLE patients showed a distinct metabolic profile compared with the MetS group, characterized by lower BMI, visceral fat, blood pressure, glucose, and liver enzyme levels. Within the SLE cohort, PRS values varied markedly and correlated with specific clinical and biochemical features. Linear regression models revealed a significant inverse association between PRS in SLE and ferritin levels, whereas other metabolic and inflammatory markers (glucose, IL-6, LDL, CRP, neutrophils) were directly influenced by clinical factors. Conclusions: Polygenic predisposition contributes to variability in SLE metabolic phenotype but does not independently drive most inflammatory parameters. SLE patients displayed metabolic and inflammatory alterations relevant to cardiovascular risk, highlighting the importance of comprehensive cardiometabolic assessment. Integrating PRS with metabolic profiling may support precision personalized management and improve cardiovascular risk evaluation in SLE. Full article
(This article belongs to the Special Issue Genetic Aspects of Autoimmune Diseases)
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6 pages, 177 KB  
Case Report
A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood
by Vijayalakshmi Kumar, Constance Jensina de Saint-Aubain and Konstantin N. Konstantinov
Genes 2026, 17(4), 439; https://doi.org/10.3390/genes17040439 - 11 Apr 2026
Viewed by 304
Abstract
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder with marked clinical heterogeneity, frequently leading to delayed diagnosis. We describe a 71-year-old woman with lifelong episodic inflammatory symptoms beginning in infancy, including recurrent fevers, lymphadenopathy, and gastrointestinal and mucocutaneous manifestations, later [...] Read more.
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder with marked clinical heterogeneity, frequently leading to delayed diagnosis. We describe a 71-year-old woman with lifelong episodic inflammatory symptoms beginning in infancy, including recurrent fevers, lymphadenopathy, and gastrointestinal and mucocutaneous manifestations, later evolving into intermittent arthralgia, myalgia, and fatigue. A unifying diagnosis was established when genetic testing identified two missense pathogenic MVK variants consistent with compound heterozygous MKD, supported by elevated serum IgD levels and a characteristic clinical phenotype. This case illustrates the essential role of molecular genetic testing in resolving prolonged diagnostic odyssey, in guiding surveillance for complications such as AA amyloidosis, and enabling targeted therapeutic strategies. Full article
(This article belongs to the Special Issue Genetic Aspects of Autoimmune Diseases)
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