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Molecular Insight into Autoinflammatory Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 October 2025 | Viewed by 3005

Special Issue Editors

Special Issue Information

Dear Colleagues,

Autoinflammatory disease (AIF) and autoimmune disease are two classifications of disorders that involve the immune system erroneously attacking healthy cells. Despite the numerous similarities among these inflammatory illnesses, distinct characteristics render each one distinctive. At one end of the inflammatory spectrum are the uncommon monogenic autoimmune disorders. At the opposite end are the equally rare monogenic autoinflammatory disorders. This category includes all diseases with an autoimmune phenotype and autoinflammatory characteristics, as well as those with autoinflammatory pathologies that exhibit partially autoimmune traits. Innate immunity issues lead to autoinflammatory disorders, whereas autoimmune diseases stem from the dysregulated adaptive immunity. Diseases that encompass both forms of immunity include ankylosing spondylitis, psoriatic arthritis, Behcet’s disease, and Crohn’s disease, among others.

AIFs are induced by changes in the genes that govern and modulate innate immune cells. Monogenic conditions, like familial Mediterranean fever and TNF receptor-associated periodic syndrome, stem from a single identifiable genetic flaw. Consequently, they may be hereditary. Autoinflammatory disorders are exceedingly uncommon. In contrast to autoimmune diseases, most AIFs manifest during childhood. The infrequency of these disorders, as well as their resemblance to other conditions, often result in delayed diagnosis. Clinical findings, as well as the age of onset and family history, can aid in the diagnosis of these rare illnesses. In certain instances, testing for genetic mutations is employed to validate a diagnosis of AIF.

The goal of the Special Issue is to include papers in which the authors map the molecular background of rare monogenic AIFs and more common AIFs with autoimmune features, investigate their clinical correlation, and present their therapeutic potential. Review articles, including rare case reports, are also welcome to assist clinicians not only in the diagnosis of the disease, but also in its therapy.

Dr. Ferenc Sipos
Prof. Dr. Györgyi Műzes
Guest Editors

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Keywords

  • autoinflammation
  • autoimmunity
  • genetics
  • epigenetics
  • molecular pathogenesis
  • therapy
  • diagnosis
  • rare cases

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Published Papers (2 papers)

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Research

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10 pages, 358 KiB  
Article
Early Progression Prediction in Korean Crohn’s Disease Using a Korean-Specific PrediXcan Model
by Tae-woo Kim, Soo Kyung Park, Jaeyoung Chun, Suji Kim, Chang Hwan Choi, Sang-Bum Kang, Ki Bae Bang, Tae Oh Kim, Geom Seog Seo, Jae Myung Cha, Yunho Jung, Hyun Gun Kim, Jong Pil Im, Kwang Sung Ahn, Chang Kyun Lee, Hyo Jong Kim, Sangsoo Kim and Dong Il Park
Int. J. Mol. Sci. 2025, 26(7), 2910; https://doi.org/10.3390/ijms26072910 - 23 Mar 2025
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Abstract
Crohn’s disease (CD) is a chronic inflammatory disorder with potential progression to stricturing (B2) or penetrating (B3) phenotypes, leading to significant complications. Early identification of patients at risk for these complications is critical for personalized management. This study aimed to develop a predictive [...] Read more.
Crohn’s disease (CD) is a chronic inflammatory disorder with potential progression to stricturing (B2) or penetrating (B3) phenotypes, leading to significant complications. Early identification of patients at risk for these complications is critical for personalized management. This study aimed to develop a predictive model using clinical data and a Korean-specific transcriptome-wide association study (TWAS) to forecast early progression in CD patients. A retrospective analysis of 430 Korean CD patients from 15 hospitals was conducted. Genotyping was performed using the Korea Biobank Array, and gene expression predictions were derived from a TWAS model based on terminal ileum data. Logistic regression models incorporating clinical and gene expression data predicted progression to B2 or B3 within 24 months of diagnosis. Among the cohort, 13.9% (60 patients) progressed to B2 and 16.9% (73 patients) to B3. The combined model achieved mean area under the curve (AUC) values of 0.788 for B2 and 0.785 for B3 progression. Key predictive genes for B2 included CCDC154, FAM189A2, and TAS2R19, while PUS7, CCDC146, and MLXIP were linked to B3 progression. This integrative model provides a robust approach for identifying high-risk CD patients, potentially enabling early, targeted interventions to reduce disease progression and associated complications. Full article
(This article belongs to the Special Issue Molecular Insight into Autoinflammatory Diseases)
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Review

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23 pages, 2630 KiB  
Review
Background and Clinical Features of a Unique and Mysterious Autoinflammatory Disease, Schnitzler Syndrome
by Györgyi Műzes and Ferenc Sipos
Int. J. Mol. Sci. 2025, 26(2), 598; https://doi.org/10.3390/ijms26020598 - 12 Jan 2025
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Abstract
Schnitzler syndrome is a unique autoinflammatory disease, of which 747 cases have been described worldwide to date. The main features of the syndrome are a triad of recurrent urticaria, monoclonal IgM gammopathy, systemic inflammation associated with recurrent fever, joint and bone pain, and [...] Read more.
Schnitzler syndrome is a unique autoinflammatory disease, of which 747 cases have been described worldwide to date. The main features of the syndrome are a triad of recurrent urticaria, monoclonal IgM gammopathy, systemic inflammation associated with recurrent fever, joint and bone pain, and atypical bone remodeling (osteosclerosis). The abnormal activation of the NLRP3 inflammasome produces IL-1, which drives the disease pathology, but it also involves IL-6 and IL-18. Unlike other autoinflammatory diseases, Schnitzler syndrome lacks evidence of the gene divergence causing the abnormal activation of NLRP3. However, mutations in the MEFV and MYD88 genes can be associated with the development of the disease. Due to its rarity, diagnosing the disease can be a challenging task. IL-1 inhibitors (i.e., anakinra, canakinumab, and rilonacept) are prominent in the treatment of the disease, but the IL-6 receptor inhibitor tocilizumab and the Bruton’s tyrosine kinase inhibitor ibrutinib are also promising alternatives. In this summary article, we aim to provide a comprehensive overview of the clinical and molecular background of the disease and potential therapeutic targets, based on the cases reported so far. We diagnosed a patient who, to the best of our knowledge, represents the 748th documented case of this specific pathology. In the context of this patient, we would also like to draw attention to the potential pathogenic role of two novel gene mutations (variants of the MEFV gene “c.2084A>G” and the F2 gene “3′UTR c.*97G>A”). Full article
(This article belongs to the Special Issue Molecular Insight into Autoinflammatory Diseases)
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