Polyautoimmunity Development with Autoimmune-Associated Gene Mutations

A combination of both genetic and environmental factors can lead to devastating autoimmune diseases that can cause massive inflammatory conditions within the body, such as rheumatoid arthritis (RA), inflammatory bowel diseases (IBD) including Crohn’s disease (CD) and ulcerative colitis (UC), multiple sclerosis (MS), type 1 diabetes (T1D), etc.

Throughout the discovery and research of these and other autoimmune diseases, it has been observed that genetic mutations, mostly in the form of Single Nucleotide Polymorphisms (SNPs) affecting immunoregulation, have been associated with multiple autoimmune diseases. In some cases, individuals can develop two or more autoimmune diseases (comorbidities) that derive from the same risk alleles tagged on the same SNPs, i.e. SNP rs2476601 (R620W) tagged in the PTPN22 gene associated with a wide variety of autoimmune diseases. As such, institutes such as the Global Autoimmune Institute have dubbed individuals with two or more autoimmune conditions as having polyautoimmunity or multiple autoimmune syndrome (MAS).

As a new topic of interest in the autoimmunity field, studies involving individuals with polyautoimmunity/MAS or in vivo/in vitro/ex vivo studies have not been observed on a rigorous level. This Research Topic aims to advance further knowledge toward discovering how polyautoimmunity is developed throughout an individual’s life. With this goal in mind, researchers must ask these questions:

• What SNPs are more associated with polyautoimmunity?

• How do these specific SNPs affect immunoregulation in specific immune cells or as a whole?

• Why do some individuals with some of the same risk-allele SNPs only develop one autoimmune disease while another develops more than one?

• What are the incidence rates of polyautoimmunity/MAS and what are the more prevalent autoimmune diseases to become comorbidities with each other?

• What diagnostic or screening methods can be used for polyautoimmunity/MAS?

With this Research Topic, we encourage researchers to develop new ideas and methods to determine how one develops polyautoimmunity and what is the incidence rate of these diseases.

In this Research Topic, the Topic Editors are open to publications including:
• Reviews (Reviews, Systematic Reviews, and Meta-Analysis only)
• Original Research
• Case Reports
• Data Reports

The focus of the reports should be on how risk-allele SNPs that have been associated with one or more autoimmune diseases can potentially lead towards polyautoimmuity through the use of clinical sampling (use of primary cells or tissues from IRB-approved protocols), mouse models, and in vivo/in vitro/ex vivo experimentation with either primary cells or cell lines. Analysis of incidence/prevalence rates of polyautoimmunity/MAS in individuals is also accepted. Reviews highlighting key points missing in the field of polyautoimmunity and potential diagnostic/treatment options for these diseases are acceptable.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Conceptual Analysis
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Conceptual Analysis
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Systematic Review
• Technology and Code

Keywords: Polyautoimmunity; SNPs; Autoimmune Diseases; Immunity; Inflammation; Multiple Autoimmune Syndrome; Genes

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.