Clinical Reviews in Allergy & Immunology最新文献

{"title":"Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment.","authors":"Bruce L Zuraw, Konrad Bork, Laurence Bouillet, Sandra C Christiansen, Henriette Farkas, Anastasios E Germenis, Anete S Grumach, Allen Kaplan, Alberto López-Lera, Markus Magerl, Marc A Riedl, Adil Adatia, Aleena Banerji, Stephen Betschel, Isabelle Boccon-Gibod, Maria Bova, Henrik Balle Boysen, Teresa Caballero, Mauro Cancian, Anthony J Castaldo, Danny M Cohn, Deborah Corcoran, Christian Drouet, Atsushi Fukunaga, Michihiro Hide, Constance H Katelaris, Philip H Li, Hilary Longhurst, Jonny Peter, Fotis Psarros, Avner Reshef, Bruce Ritchie, Christine N Selva, Andrea Zanichelli, Marcus Maurer","doi":"10.1007/s12016-025-09027-4","DOIUrl":"10.1007/s12016-025-09027-4","url":null,"abstract":"<p><p>Hereditary angioedema (HAE) has been recognized for almost 150 years. The newest form of HAE, where C1 inhibitor levels are normal (HAE-nC1INH), was first described in 2000. Over the last two decades, new types of apparent non-mast cell-mediated angioedema with normal quantity and activity of C1INH have been described, in some cases with proven genetic pathogenic variants that co-segregate with angioedema expression within families. Like HAE due to C1INH deficiency, HAE-nC1INH patients are at risk of serious morbidity and mortality. Therefore, proactive management and treatment of HAE-nC1INH patients after an expert physician diagnosis is critically important. The underlying pathophysiology responsible for the angioedema has also been clarified in some of the HAE-nC1INH types. While several clinical guidelines and practice parameters including HAE-nC1INH have been published, we have made substantial progress in our understanding encompassing diagnostic criteria, pathophysiology, and treatment outcomes. HAE International (HAEi) and the US HAE Association (HAEA) convened a symposium of global HAE-nC1INH experts to synthesize our current knowledge in the area. Given the paucity of high-level evidence in HAE-nC1INH, all recommendations are based on expert opinion. This review and expert opinion on the best practice approach to diagnosing and treating HAE-nC1INH will support physicians to better manage patients with HAE-nC1INH.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"24"},"PeriodicalIF":8.4,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11889046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572262","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":"Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.","authors":"Jeremy Purow, Lauren Waidner, Hanadys Ale","doi":"10.1007/s12016-025-09035-4","DOIUrl":"https://doi.org/10.1007/s12016-025-09035-4","url":null,"abstract":"<p><p>22q11.2 deletion and duplication syndromes are complex genetic syndromes composed of a wide spectrum of clinical manifestations, mostly affecting cardiovascular, endocrine, neurodevelopmental, and immune functioning. 22q11.2 deletion syndrome (22q11.2 DS) is more common and widely recognized compared to the duplication counterpart. Most of the literature focuses on delineating the genetic, molecular, and clinical impact of 22q11.2 DS, and less information focuses on the 22q11.2 duplication syndrome (22q11.2 DupS). We will cover both variants in this review and shed light on the less reported atypical 22q11.2 deletions and duplications. Variants in multiple genes in the 22q11.2 region, especially the TBX1 and DGCR8 genes, have been linked to the clinical phenotypes of 22q11.2 DS and 22q11.2 DupS. Variations in genes on the non-deleted homologous chromosome in the critical 22q11.2 region can further influence phenotypes by revealing recessive diseases. This effect has been documented for several genes in this area, such as SNAP29 and GP1BB. Neural crest development is usually impacted leading to various cardiovascular defects including Tetralogy of Fallot and truncus arteriosus. It can also cause palatal defects, especially velopharyngeal deficiency, considered another hallmark of 22q11DS. Individuals may also present with hypocalcemia and thyroid dysfunction due to impaired parathyroid gland formation and thyroid dysgenesis, respectively. Immunodeficiencies result from impaired T-cell development due to thymic hypoplasia, also a consequence of abnormal neural crest development. Humoral defects are also now increasingly recognized in these individuals. Psychiatric, neurocognitive, and developmental features are common, but severity varies across affected individuals. Other systems like the genitourinary, gastrointestinal, skeletal, and hematological are also involved. Monitoring and treating all the possible clinical manifestations require a multi-disciplinary approach to effectively address the plethora of clinical findings. The complex nature of the treatment guidelines reflects the clinical heterogeneity of these genetic variations. Further research is required to continue exploring the mechanisms relating to the impact of genetic aberrations in the 22q11.2 region on various clinical parameters. This will hopefully guide future updates to the current clinical practice guidelines to continue tailoring them to the individual needs of each affected person.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"23"},"PeriodicalIF":8.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556040","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":"Immune and Non-immune Interactions in the Pathogenesis of Androgenetic Alopecia.","authors":"Yu Xiao, Yi Zhang, Shuting Deng, Xueyuan Yang, Xu Yao","doi":"10.1007/s12016-025-09034-5","DOIUrl":"https://doi.org/10.1007/s12016-025-09034-5","url":null,"abstract":"<p><p>Androgenetic alopecia (AGA), a leading cause of progressive hair loss, affects up to 50% of males aged 50 years, causing significant psychological burden. Current treatments, such as anti-androgen drugs and minoxidil, show heterogeneous effects, even with long-term application. Meanwhile, the large-scale adoption of other adjuvant therapies has been slow, partly due to insufficient mechanistic evidence. A major barrier to developing better treatment for AGA is the incomplete understanding of its pathogenesis. The predominant academic consensus is that AGA is caused by abnormal expression of androgens and their receptors in individuals with a genetic predisposition. Emerging evidence suggests the contributing role of factors such as immune responses, oxidative stress, and microbiome changes, which were not previously given due consideration. Immune-mediated inflammation and oxidative stress disrupt hair follicles' function and damage the perifollicular niche, while scalp dysbiosis influences local metabolism and destabilizes the local microenvironment. These interconnected mechanisms collectively contribute to AGA pathogenesis. These additional aspects enhance our current understanding and confound the conventional paradigm, bridging the gap in developing holistic solutions for AGA. In this review, we gather existing evidence to discuss various etiopathogenetic factors involved in AGA and their possible interconnections, aiming to lay the groundwork for the future identification of therapeutic targets and drug development. Additionally, we summarize the advantages and disadvantages of AGA research models, ranging from cells and tissues to animals, to provide a solid basis for more effective mechanistic studies.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"22"},"PeriodicalIF":8.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536865","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":"Mesenchymal Stromal Cell-Based Therapy: A Promising Approach for Autoimmune Diseases.","authors":"Liming Li, Yong He, Junpeng Zhao, Huiqi Yin, Xiwei Feng, Xinyu Fan, Wei Wu, Qianjin Lu","doi":"10.1007/s12016-025-09030-9","DOIUrl":"https://doi.org/10.1007/s12016-025-09030-9","url":null,"abstract":"<p><p>Autoimmune diseases are characterized by immune dysregulation, resulting in aberrant reactivity of T cells and antibodies to self-antigens, leading to various patterns of inflammation and organ dysfunction. However, current therapeutic agents exhibit broad-spectrum activity and lack disease-specific selectivity, leading to enduring adverse effects, notably severe infections, and malignancies, and patients often fail to achieve the intended clinical goals. Mesenchymal stromal cells (MSCs) are multipotent stromal cells that can be easily derived from various tissues, such as adipose tissue, umbilical cords, Wharton's jelly, placenta, and dental tissues. MSCs offer advantages due to their immunomodulatory and anti-inflammatory abilities, low immunogenicity, and a high capacity for proliferation and multipotent differentiation, making them excellent candidates for cell-based treatment in autoimmune disorders. This review will cover preclinical studies and clinical trials involving MSCs in autoimmune diseases, as well as the primary challenges associated with the clinical application of MSC therapies and strategies for maximizing their therapeutic potential.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"21"},"PeriodicalIF":8.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467269","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":"Immunomodulatory Significance of Mast Cell Exosomes (MC-EXOs) in Immune Response Coordination.","authors":"Daniel Elieh-Ali-Komi, Farzaneh Shafaghat, Shamila D Alipoor, Tohid Kazemi, Dmitrii Atiakshin, Polina Pyatilova, Marcus Maurer","doi":"10.1007/s12016-025-09033-6","DOIUrl":"10.1007/s12016-025-09033-6","url":null,"abstract":"<p><p>Mast cells (MCs) communicate with other cells by direct cell-to-cell interaction, secreting mediators, and releasing exosomes (EXOs). MC-exosomes (MC-EXOs) contain proteins, lipids, mRNAs, and noncoding RNAs (ncRNAs), exhibit typical EXO markers such as heat shock proteins, tetraspanins, tumor susceptibility gene 101 protein (TSG101), and ALG-2-interacting protein X (ALIX), and are released constitutively or following MC degranulation. MC-EXOs also have signature MC markers like FcεRI and KIT (CD117), which allows for their identification and comparison with other EXO populations. Following their release, MC-EXOs may interact with the recipient cell(s) directly or be internalized and then release their protein and nucleic acid content. This may contribute to the regulation of immune responses and other biological processes and reprogramming of recipient cells. MC-EXO proteins may integrate and become a functional part of the recipient cell membrane. The mRNA transferred by MC-EXOs is functional and the transfer of exosomal RNA to other MCs results in the expression of donor MC proteins in the recipient MCs. Moreover, MCs may function as the recipients of EXOs that are released by other non-immune and immune cells, altering the secretome of MCs. In this review, we focus on how MC-EXOs modulate the biology of other cells and vice versa; and we highlight the role of MC-EXOs in the pathogenesis of allergic and non-allergic diseases.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"20"},"PeriodicalIF":8.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457046","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":"Multi-omics in Allergic Rhinitis: Mechanism Dissection and Precision Medicine.","authors":"Yan Hao, Yujuan Yang, Hongfei Zhao, Ying Chen, Ting Zuo, Yu Zhang, Hang Yu, Limei Cui, Xicheng Song","doi":"10.1007/s12016-025-09028-3","DOIUrl":"10.1007/s12016-025-09028-3","url":null,"abstract":"<p><p>Allergic rhinitis (AR) is a common chronic inflammatory airway disease caused by inhaled allergens, and its prevalence has increased in recent decades. AR not only causes nasal leakage, itchy nose, nasal congestion, sneezing, and allergic conjunctivitis but also induces asthma, as well as sleep disorders, anxiety, depression, memory loss, and other phenomena that seriously affect the patient's ability to study and work, lower their quality of life, and burden society. The current methods used to diagnose and treat AR are still far from ideal. Multi-omics technology can be used to comprehensively and systematically analyze the differentially expressed DNA, RNA, proteins, and metabolites and their biological functions in patients with AR. These capabilities allow for an in-depth understanding of the intrinsic pathogenic mechanism of AR, the ability to explore key cells and molecules that drive its progression, and to design personalized treatment for AR. This article summarizes the progress made in studying AR by use of genomics, epigenomics, transcriptomics, proteomics, metabolomics, and microbiomics in order to illustrate the important role of multi-omics technologies in facilitating the precise diagnosis and treatment of AR.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"19"},"PeriodicalIF":8.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440082","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":"Age-Associated B Cells in Autoimmune Diseases: Pathogenesis and Clinical Implications.","authors":"Guangyang Xie, Xiaojing Chen, Yixia Gao, Ming Yang, Suqing Zhou, Liwei Lu, Haijing Wu, Qianjin Lu","doi":"10.1007/s12016-025-09021-w","DOIUrl":"10.1007/s12016-025-09021-w","url":null,"abstract":"<p><p>As a heterogeneous B cell subset, age-associated B cells (ABCs) exhibit distinct transcription profiles, extrafollicular differentiation processes, and multiple functions in autoimmunity. TLR7 and TLR9 signals, along with IFN-γ and IL-21 stimulation, are both essential for ABC differentiation, which is also regulated by chemokine receptors including CXCR3 and CCR2 and integrins including CD11b and CD11c. Given their functions in antigen uptake and presentation, autoantibody and proinflammatory cytokine secretion, and T helper cell activation, ABCs display potential in the prognosis, diagnosis, and therapy for autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis, Sjögren's syndrome, multiple sclerosis, neuromyelitis optica spectrum disorders, and ankylosing spondylitis. Specifically targeting ABCs by inhibiting T-bet and CD11c and activating CD11b and ARA2 represents potential therapeutic strategies for SLE and RA. Although single-cell sequencing technologies have recently revealed the heterogeneous characteristics of ABCs, further investigations to explore and validate ABC-target therapies are still warranted.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"18"},"PeriodicalIF":8.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11832777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440077","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":"Crosstalk Between the Skin Environment and Microbial Community in Immune-Related Skin Diseases.","authors":"Kecheng Liu, Shuting Deng, Yuan Zhou, Beilei Xu, Yu Zhang, Wei Li, Xiaochun Liu, Xu Yao","doi":"10.1007/s12016-025-09029-2","DOIUrl":"https://doi.org/10.1007/s12016-025-09029-2","url":null,"abstract":"<p><p>The skin surface hosts diverse skin microbiota, including bacteria, fungi, and viruses. Intricate interactions between the skin microenvironment and microbial community are crucial for maintaining cutaneous homeostasis. This review explores the bidirectional relationship between the skin ecosystem and its microbiota. The skin microenvironment is shaped by a combination of intrinsic factors, dominated by sweat glands and pilosebaceous units, and external factors, such as UV radiation and personal care products, which create distinct niches that influence microbial colonization patterns across different skin regions. The skin microbiome, in turn, modulates the physical, chemical, immunological, and microbial barriers of the skin. We also discuss the alterations in this crosstalk in various immune-related skin conditions such as atopic dermatitis, psoriasis, rosacea, hidradenitis suppurativa, skin cancer, and aging. Understanding these interactions is vital for developing targeted microbiome-based therapies for various skin disorders. Further researches are needed to deepen insights into the microbial roles and their therapeutic potentials in skin health and disease.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"16"},"PeriodicalIF":8.4,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425141","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":"Allergic Reactions in Dental Practice: Classification of Medicines, Mechanisms of Action, and Clinical Manifestations.","authors":"Maria Zofia Lisiecka","doi":"10.1007/s12016-025-09032-7","DOIUrl":"https://doi.org/10.1007/s12016-025-09032-7","url":null,"abstract":"<p><p>Allergic reactions in dental practice have been a serious problem, causing various clinical symptoms and having a significant impact on the quality of dental care. This study examined various aspects of allergic reactions, their causes, mechanisms of development, and prevalence in dental practice. The purpose of the study was to conduct a comprehensive analysis of allergic reactions, their classification, clinical manifestations, and mechanisms of development, and to identify the most common causes of such reactions. To achieve this goal, a systematic literature review was conducted. As a result of the study, different types of allergic reactions and mechanisms of their development were identified. Among them, special attention was paid to immediate hypersensitivity reactions mediated by immunoglobulin E (IgE). Delayed-type reactions mediated by sensitised T lymphocytes were also considered. Pseudoallergic reactions occupied a separate place in the classification of allergic reactions. The study emphasised the importance of cross-reactions, in which several structurally similar molecules bind to the same IgE antibodies or T lymphocytes. The main results of the study showed that allergic reactions can be triggered by a variety of allergens. Prominent among these were local anaesthetics such as lidocaine and benzocaine, antibiotics including penicillins and cephalosporins, latex products such as gloves and cofferdams, acrylic materials used in dental prostheses and fillings, and metal alloys containing nickel, chromium, and cobalt. The study has contributed to a better understanding of the factors causing allergic reactions in dental practice and the mechanisms of their development. This is important for improving the diagnosis and management of such cases, thereby improving the quality of dental care provided.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"17"},"PeriodicalIF":8.4,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425134","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":"Lipid Metabolism: An Emerging Player in Sjögren's Syndrome.","authors":"Keni Chang, Peiming Luo, Zizhen Guo, Lufei Yang, Jincheng Pu, Fang Han, Feiyang Cai, Jianping Tang, Xuan Wang","doi":"10.1007/s12016-025-09023-8","DOIUrl":"10.1007/s12016-025-09023-8","url":null,"abstract":"<p><p>Sjögren's syndrome (SS) is a chronic autoimmune disorder that primarily affects the exocrine glands. Due to the intricate nature of the disease progression, the exact mechanisms underlying SS are not completely understood. Recent research has highlighted the complex interplay between immune dysregulation and metabolic abnormalities in inflammatory diseases. Notably, lipid metabolism has emerged as a crucial factor in the modulation of immune function and the progression of autoimmune diseases, including SS. This review explores the prevalence of dyslipidemia in SS, emphasizing its role in the onset, progression, and prognosis of the disease. We specifically described the impact of altered lipid metabolism in exocrine glands and its association with disease-specific features, including inflammation and glandular dysfunction. Additionally, we discussed the potential clinical implications of lipid metabolism regulation, including the role of polyunsaturated fatty acids (PUFAs) and their deficits in SS pathogenesis. By identifying lipid metabolism as a promising therapeutic target, this review highlights the need for further research into lipid-based interventions for the management of SS.</p>","PeriodicalId":10423,"journal":{"name":"Clinical Reviews in Allergy & Immunology","volume":"68 1","pages":"15"},"PeriodicalIF":8.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11813826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398558","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}