{"title":"NGS data analysis for molecular diagnosis of Inborn Errors of Immunity","authors":"XT Yang, WL Yang, YL Lau","doi":"10.1016/j.smim.2024.101901","DOIUrl":"10.1016/j.smim.2024.101901","url":null,"abstract":"<div><div>Inborn errors of immunity (IEI) encompass a group of disorders with a strong genetic component. Prompt and accurate diagnosis of these disorders is essential for effective clinical management. Next-generation sequencing (NGS) has significantly enhanced the diagnostic process by offering a comprehensive and scalable approach for identifying genomic variations causal for these disorders. Nevertheless, the bioinformatics analysis of NGS data poses several challenges. In this review, we explore these challenges and share our insights on addressing them, aiming to improve the overall diagnostic yield.</div></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"74 ","pages":"Article 101901"},"PeriodicalIF":7.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Connie M. Arthur , Marie Hollenhorst , Shang-Chuen Wu , Ryan Jajosky , Hirotomo Nakahara , Hau-Ming Jan , Leon Zheng , Mischa Covington , Seth Rakoff-Nahoum , Melissa Yeung , William Lane , Cassandra Josephson , Richard D. Cummings , Sean R. Stowell
{"title":"ABO blood groups and galectins: Implications in transfusion medicine and innate immunity","authors":"Connie M. Arthur , Marie Hollenhorst , Shang-Chuen Wu , Ryan Jajosky , Hirotomo Nakahara , Hau-Ming Jan , Leon Zheng , Mischa Covington , Seth Rakoff-Nahoum , Melissa Yeung , William Lane , Cassandra Josephson , Richard D. Cummings , Sean R. Stowell","doi":"10.1016/j.smim.2024.101892","DOIUrl":"10.1016/j.smim.2024.101892","url":null,"abstract":"<div><div>ABO blood group antigens, which are complex carbohydrate moieties, and the first human polymorphisms identified, are critical in transfusion medicine and transplantation. Despite their discovery over a century ago, significant questions remain about the development of anti-ABO antibodies and the structural features of ABO antigens that cause hemolytic transfusion reactions. Anti-ABO antibodies develop naturally during the first few months of life, in contrast to other red blood cell (RBC) alloantibodies which form after allogeneic RBC exposure. Anti-ABO antibodies are the most common immune barrier to transfusion and transplantation, but the factors driving their formation are incompletely understood. Some studies suggest that microbes that express glycans similar in structure to the blood group antigens could play a role in anti-blood group antibody formation. While the role of these microbes in clinically relevant anti-blood group antibody formation remains to be defined, the presence of these microbes raises questions about how blood group-positive individuals protect themselves against blood group molecular mimicry. Recent studies suggest that galectins can bind and kill microbes that mimic blood group antigens, suggesting a unique host defense mechanism against microbial molecular mimicry. However, new models are needed to fully define the impact of microbes, galectins, or other factors on the development of clinically relevant naturally occurring anti-blood group antibodies.</div></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"74 ","pages":"Article 101892"},"PeriodicalIF":7.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142432954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sialic acid and Siglec receptors in tumor immunity and immunotherapy","authors":"Natalia Rodrigues Mantuano , Heinz Läubli","doi":"10.1016/j.smim.2024.101893","DOIUrl":"10.1016/j.smim.2024.101893","url":null,"abstract":"<div><div>Immunotherapy, including immune checkpoint inhibition, has transformed cancer therapy in recent years, providing new and potentially curative options for patients with even advanced disease. However, only a minority of patients achieve long-lasting remissions, and resistance to immune checkpoint inhibition is common. Recently, the sialic acid-Siglec axis has been proposed as a new immune checkpoint that could overcome resistance to current immunotherapy options. In this review, we summarize the current preclinical knowledge about the role of the sialic acid-Siglec interaction in immune suppression in cancer and discuss potential approaches to block this inhibitory pathway to enhance anti-cancer immunity.</div></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"74 ","pages":"Article 101893"},"PeriodicalIF":7.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mirta Schattner , Bethan Psaila , Gabriel A. Rabinovich
{"title":"Shaping hematopoietic cell ecosystems through galectin-glycan interactions","authors":"Mirta Schattner , Bethan Psaila , Gabriel A. Rabinovich","doi":"10.1016/j.smim.2024.101889","DOIUrl":"10.1016/j.smim.2024.101889","url":null,"abstract":"<div><div>Hematopoiesis- the formation of blood cell components- continually replenishes the blood system during embryonic development and postnatal lifespans. This coordinated process requires the synchronized action of a broad range of cell surface associated proteins and soluble mediators, including growth factors, cytokines and lectins. Collectively, these mediators control cellular communication, signalling, commitment, proliferation, survival and differentiation. Here we discuss the role of galectins – an evolutionarily conserved family of glycan-binding proteins – in the establishment and dynamic remodelling of hematopoietic niches. We focus on the contribution of galectins to B and T lymphocyte development and selection, as well as studies highlighting the role of these proteins in myelopoiesis, with particular emphasis on erythropoiesis and megakaryopoiesis. Finally, we also highlight recent findings suggesting the role of galectin-1, a prototype member of this protein family, as a key pathogenic factor and therapeutic target in myelofibrosis. Through extracellular or intracellular mechanisms, galectins can influence the fate and function of distinct hematopoietic progenitors and fine-tune the final repertoire of blood cells, with critical implications in a wide range of physiologically vital processes including innate and adaptive immunity, immune tolerance programs, tissue repair, regeneration, angiogenesis, inflammation, coagulation and oxygen delivery. Additionally, positive or negative regulation of galectin-driven circuits may contribute to a broad range of blood cell disorders.</div></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"74 ","pages":"Article 101889"},"PeriodicalIF":7.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142432955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zélia Silva , Cátia O. Soares , Mariana Barbosa , Angelina S. Palma , Filipa Marcelo , Paula A. Videira
{"title":"The role of sialoglycans in modulating dendritic cell function and tumour immunity","authors":"Zélia Silva , Cátia O. Soares , Mariana Barbosa , Angelina S. Palma , Filipa Marcelo , Paula A. Videira","doi":"10.1016/j.smim.2024.101900","DOIUrl":"10.1016/j.smim.2024.101900","url":null,"abstract":"<div><div>Dendritic cells (DCs) are crucial for initiating immune responses against tumours by presenting antigens to T cells. Glycosylation, particularly sialylation, plays a significant role in regulating cell functions, by modulating protein folding and signalling. This review aimed to provide a comprehensive overview of how sialic acids influence key aspects of DC biology, including maturation, migration, antigen presentation, and T cell interactions. Sialic acids influence DC endocytosis, affecting their ability to uptake and present antigens, while guiding their migration to lymph nodes and inflamed tissues. Removing sialic acids enhances DC-mediated antigen presentation to T cells, potentially boosting immune responses. Additionally, sialylated glycans on DCs modulate immune checkpoints, which can impact tumour immunity. Hypersialylation of tumour mucins further promotes immune evasion by interacting with DCs. Understanding the interplay between sialylation and DC functions offers promising avenues for enhancing cancer immunotherapy.</div></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"74 ","pages":"Article 101900"},"PeriodicalIF":7.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lucy I. Crouch , Cláudia S. Rodrigues , Cassie R. Bakshani , Leticia Tavares-Gomes , Joana Gaifem , Salomé S. Pinho
{"title":"The role of glycans in health and disease: Regulators of the interaction between gut microbiota and host immune system","authors":"Lucy I. Crouch , Cláudia S. Rodrigues , Cassie R. Bakshani , Leticia Tavares-Gomes , Joana Gaifem , Salomé S. Pinho","doi":"10.1016/j.smim.2024.101891","DOIUrl":"10.1016/j.smim.2024.101891","url":null,"abstract":"<div><div>The human gut microbiota is home to a diverse collection of microorganisms that has co-evolved with the host immune system in which host-microbiota interactions are essential to preserve health and homeostasis. Evidence suggests that the perturbation of this symbiotic host-microbiome relationship contributes to the onset of major diseases such as chronic inflammatory diseases including Inflammatory Bowel Disease. The host glycocalyx (repertoire of glycans/sugar-chains at the surface of gut mucosa) constitutes a major biological and physical interface between the intestinal mucosa and microorganisms, as well as with the host immune system. Glycans are an essential niche for microbiota colonization and thus an important modulator of host-microorganism interactions both in homeostasis and in disease. In this review, we discuss the role of gut mucosa glycome as an instrumental pathway that regulates host-microbiome interactions in homeostasis but also in health to inflammation transition. We also discuss the power of mucosa glycosylation remodelling as an attractive preventive and therapeutic strategy to preserve gut homeostasis.</div></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"73 ","pages":"Article 101891"},"PeriodicalIF":7.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The origins, manifestations, and potential treatments of allergic disorders","authors":"Donata Vercelli , Stephen J. Galli","doi":"10.1016/j.smim.2024.101886","DOIUrl":"https://doi.org/10.1016/j.smim.2024.101886","url":null,"abstract":"","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"73 ","pages":"Article 101886"},"PeriodicalIF":7.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141314536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Durability of immune responses to SARS-CoV-2 infection and vaccination","authors":"Mehul S. Suthar","doi":"10.1016/j.smim.2024.101884","DOIUrl":"https://doi.org/10.1016/j.smim.2024.101884","url":null,"abstract":"<div><p>Infection with SARS-CoV-2 in humans has caused a pandemic of unprecedented dimensions. SARS-CoV-2 is primarily transmitted through respiratory droplets and targets ciliated epithelial cells in the nasal cavity, trachea, and lungs by utilizing the cellular receptor angiotensin-converting enzyme 2 (ACE2). The innate immune response, including type I and III interferons, inflammatory cytokines (IL-6, TNF-α, IL-1β), innate immune cells (monocytes, DCs, neutrophils, natural killer cells), antibodies (IgG, sIgA, neutralizing antibodies), and adaptive immune cells (B cells, CD8+ and CD4+ T cells) play pivotal roles in mitigating COVID-19 disease. Broad and durable B-cell– and T-cell immunity elicited by infection and vaccination is essential for protection against severe disease, hospitalization and death. However, the emergence of SARS-CoV-2 variants that evade neutralizing antibodies continue to jeopardize vaccine efficacy. In this review, we highlight our understanding the infection- and vaccine-mediated humoral, B and T cell responses, the durability of the immune responses, and how variants continue to threaten the efficacy of SARS-CoV-2 vaccines.</p></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"73 ","pages":"Article 101884"},"PeriodicalIF":7.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141303368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The world’s largest experiment in human immunology","authors":"Bali Pulendran","doi":"10.1016/j.smim.2024.101888","DOIUrl":"10.1016/j.smim.2024.101888","url":null,"abstract":"","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"73 ","pages":"Article 101888"},"PeriodicalIF":7.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142322061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Early life microbiome influences on development of the mucosal innate immune system","authors":"Aline Ignacio, Sonia Czyz, Kathy D. McCoy","doi":"10.1016/j.smim.2024.101885","DOIUrl":"https://doi.org/10.1016/j.smim.2024.101885","url":null,"abstract":"<div><p>The gut microbiota is well known to possess immunomodulatory capacities, influencing a multitude of cellular signalling pathways to maintain host homeostasis. Although the formation of the immune system initiates before birth in a sterile environment, an emerging body of literature indicates that the neonatal immune system is influenced by a first wave of external stimuli that includes signals from the maternal microbiota. A second wave of stimulus begins after birth and must be tightly regulated during the neonatal period when colonization of the host occurs concomitantly with the maturation of the immune system, requiring a fine adjustment between establishing tolerance towards the commensal microbiota and preserving inflammatory responses against pathogenic invaders. Besides integrating cues from commensal microbes, the neonatal immune system must also regulate responses triggered by other environmental signals, such as dietary antigens, which become more complex with the introduction of solid food during the weaning period. This “window of opportunity” in early life is thought to be crucial for the proper development of the immune system, setting the tone of subsequent immune responses in adulthood and modulating the risk of developing chronic and metabolic inflammatory diseases. Here we review the importance of host-microbiota interactions for the development and maturation of the immune system, particularly in the early-life period, highlighting the known mechanisms involved in such communication. This discussion is focused on recent data demonstrating microbiota-mediated education of innate immune cells and its role in the development of lymphoid tissues.</p></div>","PeriodicalId":49546,"journal":{"name":"Seminars in Immunology","volume":"73 ","pages":"Article 101885"},"PeriodicalIF":7.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S104453232400023X/pdfft?md5=d018d4af0ce3c913e6674c37e433dcb9&pid=1-s2.0-S104453232400023X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141090243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}