Expert Review of Clinical Immunology最新文献

Editorial for exploring understudied inflammatory diseases. 探索未被充分研究的炎症性疾病的社论。

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-05-08 DOI: 10.1080/1744666X.2026.2672492

Thomas G Forsthuber, Itay Raphael

引用次数: 0

What is the best way to plan a 12-month clinical drug trial in JIA associated uveitis? 计划JIA相关性葡萄膜炎12个月临床药物试验的最佳方法是什么？

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-05-08 DOI: 10.1080/1744666X.2026.2659684

Ivan Foeldvari, Ameenat Solebo, Sheila T Angeles-Han, Agnes Galbo Brost, Joke de Boer, Jesus Díaz-Cascajosa, Mia Glerup, Helene Ingels, Jens Klotsche, Viera Koopman-Kalinina Ayuso, Ilaria Maccora, Stephanie Mata, Ellen Nordal, Nicolino Ruperto, Gabriele Simonini, Joost F Swart, Jan Titz, Charlotte L L I van Meerwij, Jordi Anton

{"title":"What is the best way to plan a 12-month clinical drug trial in JIA associated uveitis?","authors":"Ivan Foeldvari, Ameenat Solebo, Sheila T Angeles-Han, Agnes Galbo Brost, Joke de Boer, Jesus Díaz-Cascajosa, Mia Glerup, Helene Ingels, Jens Klotsche, Viera Koopman-Kalinina Ayuso, Ilaria Maccora, Stephanie Mata, Ellen Nordal, Nicolino Ruperto, Gabriele Simonini, Joost F Swart, Jan Titz, Charlotte L L I van Meerwij, Jordi Anton","doi":"10.1080/1744666X.2026.2659684","DOIUrl":"https://doi.org/10.1080/1744666X.2026.2659684","url":null,"abstract":"Introduction: Juvenile idiopathic arthritis associated anterior uveitis (JIA-U) is the most common extraarticular manifestation of JIA. There are no published proposed criteria or outcome measures for a 12-month clinical trial for JIA-U.Areas covered: Our expert group, the Multinational Interdisciplinary Working Group for Uveitis in Childhood (MIWGUC), reviewed the previous trials, the quality-of-life instruments, biomarkers, and the patient perspective. Based on an expert consensus, a proposal for a future clinical trial was developed, to provide a foundation for the standardization of outcome measures and trial design in JIA-U. By integrating clinical, imaging, biomarker, and patient-reported outcomes into a unified framework, we aim to accelerate evidence-based therapeutic development and improve long-term care for children affected by anterior uveitis.Expert opinion: A key measure of primary outcome is the anterior chamber cell number, which has intra-observer and inter-observer variation. New techniques that are objective and decrease the variation of the assessment are emerging. Anterior Segmentation Optical Coherence Tomography (OCT) is an innovative imaging technology to assess the number of anterior chamber cells in OCT. The flare meter is an additional assessment, although not yet widely used.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"1-14"},"PeriodicalIF":3.7,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147835844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pregnancy and reproductive care in Behçet's disease: clinical excellence across the maternal journey. behet病的妊娠和生殖保健：整个产妇旅程的临床卓越。

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-05-06 DOI: 10.1080/1744666X.2026.2669542

Ghaydaa Aldabie, Ahlam Almarzooqi, Shamma Al Nokhatha, Wesam Gouda, Mohammad Khudadah, Rawan Saleh, Maher Banjari, Roaa Aljohani, Samar Al-Emadi, Ali Jawad

{"title":"Pregnancy and reproductive care in Behçet's disease: clinical excellence across the maternal journey.","authors":"Ghaydaa Aldabie, Ahlam Almarzooqi, Shamma Al Nokhatha, Wesam Gouda, Mohammad Khudadah, Rawan Saleh, Maher Banjari, Roaa Aljohani, Samar Al-Emadi, Ali Jawad","doi":"10.1080/1744666X.2026.2669542","DOIUrl":"https://doi.org/10.1080/1744666X.2026.2669542","url":null,"abstract":"Introduction: Behçet's disease (BD) is a rare, multisystem inflammatory disorder predominantly affecting women during their reproductive years. Its potential impact on pregnancy outcomes makes understanding optimal management strategies crucial. Given the complexity and variability of this disease during pregnancy, there is a compelling need to review current evidence to guide clinical practice and improve maternal and neonatal outcomes.Areas covered: This narrative review consolidates recent literature from database inception to June 2025, focusing on disease course, reproductive implications, and obstetric outcomes in women with BD. It evaluates the safety of immunosuppressive therapies during conception, pregnancy, and lactation. The review highlights key aspects such as preconception planning, disease monitoring, delivery considerations, and postpartum care, drawing from a broad spectrum of clinical research, guidelines, and expert opinions.Expert opinion: The current evidence suggests that with personalized, multidisciplinary care and careful medication management, many women with BD can experience successful pregnancies. While existing data support the safety of several therapies and highlight the importance of preconception counseling, significant gaps remain due to limited high-quality prospective studies. Advancements in understanding disease mechanisms, developing standardized protocols, and establishing evidence-based guidelines are necessary to optimize care and further improve reproductive outcomes in this patient population.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"1-11"},"PeriodicalIF":3.7,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147835809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Glucagon-like peptide-1 receptor agonists (GLP-1RAs) in dermatology: cutaneous adverse events and emerging efficacy in inflammatory skin diseases. 皮肤病学中的胰高血糖素样肽-1受体激动剂（GLP-1RAs）：炎症性皮肤病的皮肤不良事件和新出现的疗效

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-30 DOI: 10.1080/1744666X.2026.2665732

Meng Jie Ho, Choon Fong Liew, Nguan Soon Tan, Akimichi Morita, Hazel H Oon

{"title":"Glucagon-like peptide-1 receptor agonists (GLP-1RAs) in dermatology: cutaneous adverse events and emerging efficacy in inflammatory skin diseases.","authors":"Meng Jie Ho, Choon Fong Liew, Nguan Soon Tan, Akimichi Morita, Hazel H Oon","doi":"10.1080/1744666X.2026.2665732","DOIUrl":"https://doi.org/10.1080/1744666X.2026.2665732","url":null,"abstract":"Introduction: Glucagon-like peptide-1 receptor agonists (GLP-1RAs) and next-generation incretin therapies are increasingly used for diabetes and obesity, yet cutaneous adverse events remain incompletely characterized. New-onset dermatological manifestations after GLP-1RA initiation such as rash or alopecia may be misattributed to baseline inflammatory skin disease rather than drug-induced toxicity.Areas covered: Searches of PubMed, Embase and Cochrane from inception to 4 October 2025 yielded 3,006 records; 80 primary studies were included. Small studies suggest improvement in psoriasis and hidradenitis, particularly with liraglutide. Reported cutaneous events include hypersensitivity reactions, panniculitis, bullous pemphigoid, lupus, vasculitis, and alopecia or appearance-related changes. Dermatologic data for investigational incretin-based agents remain sparse overall.Expert opinion: Most cutaneous adverse reactions are mild to moderate, manageable and reversible; however, underreporting and inconsistent terminology limit accurate risk estimation. Emerging evidence suggests GLP-1RAs may improve psoriasis and hidradenitis via weight-dependent and anti-inflammatory mechanisms, supporting adjunctive use in selected patients. CTCAE-aligned grading, photo-supported documentation and early dermatology input could guide 'continue vs pause vs stop' decision-making, improving diagnostic confidence and enabling prospective drug safety surveillance. Future directions include mechanistic studies dissecting weight-independent pathways and prospective trials to identify optimal patient phenotypes for GLP-1RA therapy in inflammatory skin diseases.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"1-18"},"PeriodicalIF":3.7,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Inflammatory bowel disease and primary sclerosing cholangitis: immunological links and clinical outlook. 炎症性肠病和原发性硬化性胆管炎：免疫学联系和临床前景。

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-27 DOI: 10.1080/1744666X.2026.2664055

Sara Massironi, Fabrizio Fanizzi, Federica Invernizzi, Federica Furfaro, Lorenzo Ciocca, Ivan Arcari, Mariangela Allocca, Laurent Peyrin-Biroulet, Silvio Danese

{"title":"Inflammatory bowel disease and primary sclerosing cholangitis: immunological links and clinical outlook.","authors":"Sara Massironi, Fabrizio Fanizzi, Federica Invernizzi, Federica Furfaro, Lorenzo Ciocca, Ivan Arcari, Mariangela Allocca, Laurent Peyrin-Biroulet, Silvio Danese","doi":"10.1080/1744666X.2026.2664055","DOIUrl":"https://doi.org/10.1080/1744666X.2026.2664055","url":null,"abstract":"Introduction: Primary sclerosing cholangitis (PSC) represents a progressive fibroinflammatory cholangiopathy intricately linked to inflammatory bowel disease (IBD), forming a distinctive overlap syndrome driven by immune dysregulation and gut-liver axis disruption and characterized by a markedly increased risk of colorectal and hepatobiliary cancers.Areas covered: This review summarizes current understanding of the immunopathogenesis and clinical spectrum of PSC-IBD. Key mechanisms include aberrant lymphocyte homing through the α4β7/MAdCAM-1 axis, shared genetic susceptibility loci, alterations in bile acid metabolism, and gut microbial dysbiosis. The clinical course and malignancy risk of PSC-IBD are contrasted with those of isolated PSC and IBD, and surveillance strategies are discussed. Therapeutic approaches under investigation, such as advanced therapies and microbiome-targeted interventions including oral vancomycin, are critically appraised based on recent translational and clinical studies.Expert opinion: PSC-IBD demands multidisciplinary, risk-stratified management and intensive cancer surveillance. Although no medical therapy currently halts disease progression, novel agents modulating immune and microbial pathways represent promising avenues. In the future, integration of hepatology, gastroenterology, and immunology within a precision-medicine framework is expected to reshape disease stratification and therapeutic decision-making for this complex overlap syndrome.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"1-17"},"PeriodicalIF":3.7,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multi-class classification of autoimmune skin disease by efficient localization of overlapped lesion boundaries using SAM. 自身免疫性皮肤病的多类别分类利用SAM有效定位重叠病变边界。

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-26 DOI: 10.1080/1744666X.2026.2663042

A Jasmine Gilda, T Sethukarasi

{"title":"Multi-class classification of autoimmune skin disease by efficient localization of overlapped lesion boundaries using SAM.","authors":"A Jasmine Gilda, T Sethukarasi","doi":"10.1080/1744666X.2026.2663042","DOIUrl":"https://doi.org/10.1080/1744666X.2026.2663042","url":null,"abstract":"Background: Detection of Autoimmune skin disease is found challenging due to overlapping features and irregular skin lesion boundaries. Although numerous deep learning models have been proposed for skin disease classification, most are primarily designed for general skin lesions and do not capture the complex and irregular visual characteristics specific to autoimmune skin conditions.Research design and methods: The proposed study develops a hybrid deep learning model, AutoImmune-HybridNet, that uses the Segment Anything Model for intelligent isolation of lesion regions, and ResNet50 with a deformable attention transformer for adaptively modeling the irregular shapes and spatial patterns of autoimmune skin lesions. A deformable attention transformer is improved with contrastive learning and the focal loss function to enhance feature discrimination among visually similar conditions. Explainability is incorporated with uncertainty estimation to ensure reliable predictions.Results: The AutoImmune-HybridNet was evaluated on a Human Skin Diseases dataset, and the model achieved an accuracy of 98%, which is better than currently available approaches.Conclusions: The proposed explainable deep learning framework effectively classifies multiple autoimmune skin diseases while providing an interpretable visualization. Limitations include dataset size and reliance on image-only data will be addressed in future work using multi-modal clinical information.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"1-11"},"PeriodicalIF":3.7,"publicationDate":"2026-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A new approach and conceptual model for understanding systemic sclerosis-associated gastrointestinal symptoms. 理解系统性硬化症相关胃肠道症状的新方法和概念模型。

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-24 DOI: 10.1080/1744666X.2026.2663044

Samuel D Good, Elizabeth R Volkmann, Chamara Basnayake, Laura Ross

{"title":"A new approach and conceptual model for understanding systemic sclerosis-associated gastrointestinal symptoms.","authors":"Samuel D Good, Elizabeth R Volkmann, Chamara Basnayake, Laura Ross","doi":"10.1080/1744666X.2026.2663044","DOIUrl":"https://doi.org/10.1080/1744666X.2026.2663044","url":null,"abstract":"Introduction: Our understanding of the pathogenesis of systemic sclerosis-associated gastrointestinal (SSc-GI) disease is limited. This has hindered progress in the management of SSc-GI disease as objective measures to assess the extent of disease and monitor treatment response are lacking. We propose a conceptual model for understanding pathogenic mechanisms of SSc-GI symptoms. A multi-dimensional model of understanding the etiology of symptoms may enable an improved understanding of patients' symptom experience and opportunities for development of therapies.Areas covered: We reviewed literature from the past 5 years pertaining to SSc-GI symptoms and their etiology. When gaps in data were identified, we evaluated research from general gastroenterology and inflammatory bowel disease. We describe evolving concepts of pathologic mechanisms of SSc-GI disease, including motility, the gut-brain axis, diet, the microbiome and pelvic floor dysfunction.Expert opinion: A broad understanding of factors that contribute to symptoms is necessary to understand the experience of SSc-GI disease and develop targeted therapies that modify the SSc-GI disease course. Due to a lack of objective clinical outcome measures in SSc-GI disease, qualitative research methodologies are essential for deepening our understanding of these patient experiences and developing new outcome measures to enable trials to establish an evidence-based approach to SSc-GI disease.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"1-13"},"PeriodicalIF":3.7,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Covid-19 immunological consequences: immunological significance of viro-allergic-hygiene hypothesis. Covid-19免疫学后果：病毒-过敏-卫生假说的免疫学意义。

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-23 DOI: 10.1080/1744666X.2026.2664060

Oyepata Simeon Joseph

{"title":"Covid-19 immunological consequences: immunological significance of viro-allergic-hygiene hypothesis.","authors":"Oyepata Simeon Joseph","doi":"10.1080/1744666X.2026.2664060","DOIUrl":"https://doi.org/10.1080/1744666X.2026.2664060","url":null,"abstract":"Introduction: Coronavirus disease 2019 (COVID-19) pandemic is assumed to begin in China with a group of severe pneumonia cases. Scientist are yet to fully understand effect and long time implication of this pandemic. This study aim at assessing infection (CF1) and mortality (CF2) indices across 154 countries to clarify these disparities and explore immuno-ecological explanations.Areas covered: One hundred and fifty four national data from WHO were normalized against the United States (CF1 = 1.0; CF2 = 1.0). Country-specific indices were calculated and grouped by WHO region. Regional means and standard deviations were generated, and comparative figures were produced to illustrate epidemiological patterns.Expert opinion: Europe (mean CF1 = 0.688; CF2 = 0.727) and the Americas (CF1 = 0.445; CF2 = 0.705) showed the highest combined burdens. Certain countries, including Peru, Hungary, and Bosnia, recorded disproportionately elevated mortality indices (CF2 > 1.5). Africa consistently showed near-baseline values (CF1 = 0.058; CF2 = 0.073), while the Western Pacific (CF1 = 0.175; CF2 = 0.094) and South-East Asia (CF1 = 0.274; CF2 = 0.175) demonstrated low mortality. The viro-allergy-hygiene hypothesis offers a plausible explanation, suggesting that repeated microbial exposures, endemic infections, and trained immunity recalibrate host responses and mitigate severe outcomes.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Revisiting an immunoneuropsychiatry classic: Sydenham's chorea. 重温免疫神经精神病学经典：西德纳姆舞蹈病。

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-21 DOI: 10.1080/1744666X.2026.2660763

Antonio L Teixeira, Debora P Maia, Maria Carmo Pereira Nunes, Gabriel A de Erausquin, Cristian P Zeni, Aline S Miranda

{"title":"Revisiting an immunoneuropsychiatry classic: Sydenham's chorea.","authors":"Antonio L Teixeira, Debora P Maia, Maria Carmo Pereira Nunes, Gabriel A de Erausquin, Cristian P Zeni, Aline S Miranda","doi":"10.1080/1744666X.2026.2660763","DOIUrl":"10.1080/1744666X.2026.2660763","url":null,"abstract":"Introduction: Sydenham chorea (SC) is the major neurologic manifestation of rheumatic fever. It is defined by characteristic involuntary movements and frequently associated with neuropsychiatric symptoms that may develop weeks or months following a Group A beta hemolytic streptococcal (GAS) infection.Areas covered: The authors searched PubMed database for recent original studies and systematic reviews on SC pathogenesis, clinical spectrum and therapeutic approaches.Expert opinion: Compelling evidence supports that autoantibodies targeting neuronal antigens underly the pathogenesis of SC. In the basal ganglia, autoantibodies react, among other epitopes, with dopamine type 2 (D2) receptors. The resulting dopaminergic signaling dysfunction leads to SC-related motor and neuropsychiatric symptoms. A key gap in the antibody-mediated hypothesis of SC lays on the limited understanding on how peripherally generated autoantibodies reach the basal ganglia. D2 antagonists and valproic acid are the main symptomatic therapeutic strategies for SC. The use of corticosteroids can accelerate the resolution of motor symptoms, and must be considered in severe cases, including chorea paralytica. Plasmapheresis and immunoglobulin have been considered investigational for SC.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"1-11"},"PeriodicalIF":3.7,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Next-generation sequencing reveals genetic heterogeneity in MEFV-negative or heterozygous familial Mediterranean fever: a retrospective study. 新一代测序揭示了mefv阴性或杂合家族性地中海热的遗传异质性：一项回顾性研究。

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-19 DOI: 10.1080/1744666X.2026.2660767

Derya Karaer, Taner Durak, Leyla Rezan Aydin, Samet Türel, Pervin Elvan Tokgün, Gülşah Kilbaş, Semra Ayduran, Onur Tokgün, Selçuk Yüksel, Kadri Karaer

{"title":"Next-generation sequencing reveals genetic heterogeneity in MEFV-negative or heterozygous familial Mediterranean fever: a retrospective study.","authors":"Derya Karaer, Taner Durak, Leyla Rezan Aydin, Samet Türel, Pervin Elvan Tokgün, Gülşah Kilbaş, Semra Ayduran, Onur Tokgün, Selçuk Yüksel, Kadri Karaer","doi":"10.1080/1744666X.2026.2660767","DOIUrl":"10.1080/1744666X.2026.2660767","url":null,"abstract":"Background: Familial Mediterranean Fever (FMF) is traditionally linked to MEFV mutations. However, many patients remain genetically unexplained after routine screening. This study evaluates the utility of Next-Generation Sequencing (NGS) in patients with negative or heterozygous MEFV results from fragment analysis.Methods: We analyzed 320 patients clinically diagnosed with FMF who had either no mutations or a single heterozygous mutation based on traditional 16-variant screening. NGS was used to sequence the entire MEFV gene and 18 additional autoinflammatory genes.Results: NGS identified variants (pathogenic, likely pathogenic, or VUS) in 34% of cases. Crucially, NGS detected previously missed MEFV variants (e.g. c.380A > C, c.428 G > T) in 54 patients and identified compound heterozygosity in several others. Furthermore, 45 patients carried variants in non-MEFV genes, including TNFRSF1A, NOD2, and PSTPIP1, suggesting potential oligogenic or modifier effects. Clinical reevaluation of these cases revealed diverse phenotypes, including varying colchicine responses and associations with amyloidosis or neutrophilic dermatoses.Conclusions: NGS significantly increases the diagnostic yield in FMF-like presentations by detecting rare MEFV variants and identifying broader genetic heterogeneity. The transition from targeted screening to comprehensive NGS panels provides a deeper understanding of autoinflammatory phenotypes and supports individualized diagnostic and therapeutic strategies in clinical practice.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"1-11"},"PeriodicalIF":3.7,"publicationDate":"2026-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0