Immunological disorders are diseases or conditions due to the dysfunction of the immune system. They include primary immunodeficiency syndromes, autoimmune diseases, asthma, allergy, and autoinflammatory syndromes. These disorders disrupt our body’s ability to defend against pathogens. In addition, it may lead to exaggerated chronic inflammatory responses and tissue damage. Immunological disorders are clinically and genetically heterogeneous. The phenotypic spectrum of the diseases is broad in some of the disorders. On the other hand, the clinical phenotype derived from distinct genotypes can overlap, and the same phenotype can be cross-shared in different disorders. Therefore, accurate diagnosis and effective management are challenging.
Over the last decade, advances in genomics and sequencing platforms have accelerated the understanding of how candidate genes contribute to the development of immunological disorders. Significant progress has been made in discovering disease-causing genes for rare monogenic immunological disorders, especially in immunodeficiency syndrome. These findings shed insights into disease mechanisms and facilitated the identification of new biomarkers that can help in diagnosis, prognosis, and development of novel clinical therapeutic approaches.
The purpose of this topic is to update readers on the latest advances in the genetics of immunological disorders, including the discovery of new pathogenic genes, new genes associations, pathways and mechanisms involved as well as updates on clinical implications. In this research topic, we welcome original research articles, reviews (including reviews, systematic reviews, mini-reviews), case reports, opinions, and commentaries that cover the following themes:
• Identification of pathogenic and/or associated genetic loci for immunological disorders, including immunological deficiency syndromes, autoimmune diseases, asthma, allergy, and autoinflammatory syndromes.
• Integration of multi-omics data to investigate immunological disorders in relation to diagnosis, prognosis, and therapeutic approaches.
• Investigation of genetic overlapping within multiple immune disorders, e.g. shared genetics between primary immunodeficiency diseases and autoimmune diseases, genetics intersection between primary immunodeficiency and inflammatory diseases, multiple autoimmune syndrome etc.
• Novel bioinformatics and computational methods that provide fast, efficient and reliable approaches for large-scale immunological or genomics data.
• Application of state-of-the-art technologies, e.g., spatial transcriptomic, single-cell sequencing etc., in immune disorders.
• Study of pathophysiological mechanisms for causative or associated genetic loci of immunological disorders.
Immunological disorders are diseases or conditions due to the dysfunction of the immune system. They include primary immunodeficiency syndromes, autoimmune diseases, asthma, allergy, and autoinflammatory syndromes. These disorders disrupt our body’s ability to defend against pathogens. In addition, it may lead to exaggerated chronic inflammatory responses and tissue damage. Immunological disorders are clinically and genetically heterogeneous. The phenotypic spectrum of the diseases is broad in some of the disorders. On the other hand, the clinical phenotype derived from distinct genotypes can overlap, and the same phenotype can be cross-shared in different disorders. Therefore, accurate diagnosis and effective management are challenging.
Over the last decade, advances in genomics and sequencing platforms have accelerated the understanding of how candidate genes contribute to the development of immunological disorders. Significant progress has been made in discovering disease-causing genes for rare monogenic immunological disorders, especially in immunodeficiency syndrome. These findings shed insights into disease mechanisms and facilitated the identification of new biomarkers that can help in diagnosis, prognosis, and development of novel clinical therapeutic approaches.
The purpose of this topic is to update readers on the latest advances in the genetics of immunological disorders, including the discovery of new pathogenic genes, new genes associations, pathways and mechanisms involved as well as updates on clinical implications. In this research topic, we welcome original research articles, reviews (including reviews, systematic reviews, mini-reviews), case reports, opinions, and commentaries that cover the following themes:
• Identification of pathogenic and/or associated genetic loci for immunological disorders, including immunological deficiency syndromes, autoimmune diseases, asthma, allergy, and autoinflammatory syndromes.
• Integration of multi-omics data to investigate immunological disorders in relation to diagnosis, prognosis, and therapeutic approaches.
• Investigation of genetic overlapping within multiple immune disorders, e.g. shared genetics between primary immunodeficiency diseases and autoimmune diseases, genetics intersection between primary immunodeficiency and inflammatory diseases, multiple autoimmune syndrome etc.
• Novel bioinformatics and computational methods that provide fast, efficient and reliable approaches for large-scale immunological or genomics data.
• Application of state-of-the-art technologies, e.g., spatial transcriptomic, single-cell sequencing etc., in immune disorders.
• Study of pathophysiological mechanisms for causative or associated genetic loci of immunological disorders.