Expert Review of Clinical Immunology最新文献_第7页

The spectrum of autoimmune disorders in chronic immune-mediated neuropathies. 慢性免疫介导的神经病变的自身免疫性疾病谱。

IF 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-01 Epub Date: 2026-03-10 DOI: 10.1080/1744666X.2026.2641535

Joumana Freiha, Young Gi Min, Yusuf A Rajabally, Chinar Osman

{"title":"The spectrum of autoimmune disorders in chronic immune-mediated neuropathies.","authors":"Joumana Freiha, Young Gi Min, Yusuf A Rajabally, Chinar Osman","doi":"10.1080/1744666X.2026.2641535","DOIUrl":"10.1080/1744666X.2026.2641535","url":null,"abstract":"Introduction: Autoimmune disorders frequently cluster within individuals, a phenomenon known as polyautoimmunity, yet its scope and implications in chronic immune-mediated neuropathies remain underexplored.Areas covered: This review examines the association between chronic immune-mediated neuropathies and broader systemic autoimmunity to highlight the immunopathological mechanisms driving these associations, and clinical implications for diagnosis, prognosis, and treatment. A comprehensive literature search was conducted using PubMed and Embase databases for studies published up to October 2025 employing terms related to autoimmune neuropathies, polyautoimmunity, and associated systemic autoimmune diseases.Expert opinion: While autoimmune comorbidities in CIN are often viewed as confounding conditions for diagnosis, they may indicate a broader, systemic immune dysregulation. Adopting this perspective has direct clinical relevance. Proactive screening for associated autoimmune disorders is essential, as their presence can shape disease trajectory and modify treatment responsiveness. Furthermore, uncovering shared pathological pathways between CIN and these coexisting conditions may open avenues for therapeutic strategies that simultaneously target both neuropathic and systemic manifestations. To advance this field, future research may allow discovery of biomarkers that could stratify patients based on their distinct underlying immune drivers, which may pave the way for a precision medicine approach in this clinically heterogeneous population.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"393-405"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147376468","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 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-01 Epub 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":"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":"349-365"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","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

The role of interleukin-15 in the spectrum of inflammatory diseases. 白细胞介素-15在炎性疾病谱中的作用。

IF 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-01 Epub Date: 2026-01-05 DOI: 10.1080/1744666X.2025.2611897

Ilenia Di Cola, Chiara Castellini, Marta Vomero, Roberto Giacomelli, Piero Ruscitti

{"title":"The role of interleukin-15 in the spectrum of inflammatory diseases.","authors":"Ilenia Di Cola, Chiara Castellini, Marta Vomero, Roberto Giacomelli, Piero Ruscitti","doi":"10.1080/1744666X.2025.2611897","DOIUrl":"10.1080/1744666X.2025.2611897","url":null,"abstract":"Introduction: Interleukin-15 (IL-15) is a pleiotropic, pro-inflammatory cytokine, constitutively expressed in both hematopoietic and non-hematopoietic cells. The role of IL-15 during systemic inflammatory diseases, including autoimmune and autoinflammatory disorders, is to be fully clarified yet. Due to its effects on immune cells, IL-15 has attracted attention as a potential new therapeutic target for modulating immune responses, either by enhancing immune surveillance or by controlling excessive inflammation.Areas covered: We provided a landscape about IL-15 in systemic inflammatory diseases, from its biological functions to the possible mechanistic roles, using rheumatoid arthritis (RA) and Still's disease as autoimmune and autoinflammatory models, respectively.Expert opinion: IL-15 exerts its pathogenetic activity by the induction of a deregulated activation of innate and adaptive arms of the immune system, at the crossroad of autoimmune and autoinflammatory disorders. During RA, IL-15 mediates the production from T cells and macrophages of TNF, which may induce further production of IL-15 by synoviocytes via a vicious pathogenic loop. During Still's disease, together with IFN-I, IL-15 promotes the expansion of NK cells and of CD38+HLA-DR+ T cells, which are highly activated in disease life-threatening evolution. Thus, novel IL-15-targeted therapeutic strategies could be explored to improve the management of systemic inflammatory diseases.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"407-416"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145862526","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-allergy-hygiene hypothesis. Covid-19免疫学后果：病毒-过敏-卫生假说的免疫学意义。

IF 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-01 Epub Date: 2026-04-26 DOI: 10.1080/1744666X.2026.2664060

Oyepata Simeon Joseph

{"title":"COVID-19 immunological consequences: immunological significance of viro-allergy-hygiene hypothesis.","authors":"Oyepata Simeon Joseph","doi":"10.1080/1744666X.2026.2664060","DOIUrl":"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":"417-428"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","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

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 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-04-01 Epub 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":"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":"367-379"},"PeriodicalIF":4.0,"publicationDate":"2026-04-01","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

Recent advances in the pathogenesis of neuropsychiatric systemic lupus erythematosus. 神经精神系统红斑狼疮发病机制研究进展。

IF 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-03-01 Epub Date: 2026-03-26 DOI: 10.1080/1744666X.2026.2650332

Kohei Karino, Michihito Kono

{"title":"Recent advances in the pathogenesis of neuropsychiatric systemic lupus erythematosus.","authors":"Kohei Karino, Michihito Kono","doi":"10.1080/1744666X.2026.2650332","DOIUrl":"10.1080/1744666X.2026.2650332","url":null,"abstract":"Introduction: Neuropsychiatric systemic lupus erythematosus (NPSLE) is a highly heterogeneous and clinically challenging manifestation of systemic lupus erythematosus, encompassing a broad spectrum of diffuse and focal neuropsychiatric symptoms. Conventional models have emphasized vascular injury and blood-brain barrier (BBB) dysfunction; however, these frameworks alone do not fully account for phenotypic diversity, frequent absence of overt structural lesions, or variable associations with systemic disease activity.Areas covered: This review summarizes recent advances in the understanding of immune cell infiltration, resident central nervous system (CNS) cell responses, cytokine and chemokine networks, autoantibody-mediated effects, and CNS barrier-related mechanisms in NPSLE. We discuss how interactions among barrier systems, microglial activation, astrocytic reactivity, neuronal vulnerability, and context-dependent autoantibody effects collectively shape CNS pathology. Relevant literature was identified through searches of the PubMed database for studies published up to January 2026 focusing on neuroimmune mechanisms, cytokine networks, CNS barrier dysfunction, and autoantibody-mediated neuronal injury in NPSLE.Expert opinion: Integrating these processes within a neuroimmune framework highlights the importance of barrier-associated mechanisms in linking systemic autoimmunity to CNS-specific disease. This perspective supports mechanism-informed stratification and may inform future diagnostic approaches and targeted therapeutic strategies in NPSLE.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"253-262"},"PeriodicalIF":4.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147503653","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

Beyond the binary: understanding inflammatory bowel disease in the context of HIV-induced immunodeficiency. 超越二元：在hiv诱导免疫缺陷的背景下理解炎症性肠病。

IF 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-03-01 Epub Date: 2026-03-13 DOI: 10.1080/1744666X.2026.2642832

Harsh Srivastava, Tanisha Sehgal, Vishal Sharma, Himanshu Narang, Jeffrey Berinstein, Ajit Sood, Shrinivas Bishu, Manjeet Kumar Goyal

{"title":"Beyond the binary: understanding inflammatory bowel disease in the context of HIV-induced immunodeficiency.","authors":"Harsh Srivastava, Tanisha Sehgal, Vishal Sharma, Himanshu Narang, Jeffrey Berinstein, Ajit Sood, Shrinivas Bishu, Manjeet Kumar Goyal","doi":"10.1080/1744666X.2026.2642832","DOIUrl":"10.1080/1744666X.2026.2642832","url":null,"abstract":"Introduction: The coexistence of inflammatory bowel disease (IBD) and human immunodeficiency virus (HIV) represents a clinical paradox in which immune hyperactivity coexists with persistent immunodeficiency. Improved survival with antiretroviral therapy (ART) has led to increasing co-diagnoses, creating complex diagnostic and therapeutic challenges.Areas covered: A comprehensive literature search of PubMed/MEDLINE, Embase, Scopus, and the Cochrane Library from inception through December 2024 was conducted, supplemented by major gastroenterology and infectious disease conference proceedings through April 2025. This review synthesizes contemporary evidence on epidemiology, immunopathogenesis, clinical presentation, and management of IBD in people living with HIV. Key themes include immune reconstitution and Th17-cell depletion, diagnostic differentiation from infectious and noninfectious mimickers, underutilization of advanced IBD therapies despite emerging safety data, bidirectional interactions between intestinal inflammation and HIV viral dynamics, and clinically relevant ART - IBD interactions requiring multidisciplinary care.Expert opinion: Accumulating evidence supports the safe and appropriate use of immune-modulating therapies in virologically suppressed HIV-positive patients with IBD, challenging historical risk-averse approaches. Optimal management requires precision-based strategy incorporating CD4+ cell thresholds, mucosal and inflammatory biomarkers, and individualized risk stratification. Future priorities include standardized diagnostic algorithms, longitudinal registries integrating immunological and virological parameters, and improved access to advanced therapies, moving beyond the traditional autoimmunity - immunodeficiency binary.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"307-321"},"PeriodicalIF":4.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147369499","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

Microbiome and EGFR-mutant non-small cell lung cancer: a complex interplay. 微生物组和egfr突变的非小细胞肺癌：复杂的相互作用。

IF 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-03-01 Epub Date: 2026-03-16 DOI: 10.1080/1744666X.2026.2645844

Serena Eccher, Marco Sposito, Ilaria Mariangela Scaglione, Luca Pasqualin, Michele Rota, Adele Bonato, Lucia Longo, Alice Avancini, Ilaria Trestini, Daniela Tregnago, Jessica Insolda, Michele Milella, Sara Pilotto, Lorenzo Belluomini

{"title":"Microbiome and EGFR-mutant non-small cell lung cancer: a complex interplay.","authors":"Serena Eccher, Marco Sposito, Ilaria Mariangela Scaglione, Luca Pasqualin, Michele Rota, Adele Bonato, Lucia Longo, Alice Avancini, Ilaria Trestini, Daniela Tregnago, Jessica Insolda, Michele Milella, Sara Pilotto, Lorenzo Belluomini","doi":"10.1080/1744666X.2026.2645844","DOIUrl":"10.1080/1744666X.2026.2645844","url":null,"abstract":"Introduction: Epidermal growth factor receptor (EGFR)-mutant non-small cell lung cancer (NSCLC) exhibits unique biological and therapeutic characteristics. Although EGFR tyrosine kinase inhibitors (EGFR-TKIs) offer substantial clinical benefits, resistance development and treatment-related toxicities remain major challenges. Emerging evidence indicates that the host microbiome may significantly influence the efficacy and tolerability of EGFR-targeted therapies.Areas covered: This review summarizes the main microbiome characteristics of EGFR-mutant NSCLC and discusses the interplay between gut, respiratory and intratumoral microbiome, and EGFR-TKI therapy in NSCLC, highlighting differential microbiome shifts associated with different TKIs and comparing the role of microbiome in modulating responses to EGFR-TKIs. The review also explores preclinical and early clinical strategies aimed at enhancing TKI efficacy and at, potentially, improving sensitivity of EGFR-mutant NSCLC to immunotherapy.Expert opinion: Despite its emerging role, microbiome research in EGFR-mutant NSCLC holds substantial potential to refine therapeutic outcomes. Microbiota-targeted interventions may improve TKIs efficacy, mitigate toxicity, and potentially expand immunotherapeutic options in this molecularly and immunologically 'cold' subgroup. Future integrative studies combining microbiome, metabolome, and immune profiling are essential to translate these insights into personalized clinical strategies.","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":"295-306"},"PeriodicalIF":4.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147442899","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 4 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-03-01 Epub 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":"337-347"},"PeriodicalIF":4.0,"publicationDate":"2026-03-01","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

Should esophageal string test be used to monitor inflammation in EoE? 食管弦试验是否可以用于监测EoE的炎症？

IF 3.7 3区医学

Expert Review of Clinical Immunology Pub Date : 2026-03-01 Epub Date: 2026-04-17 DOI: 10.1080/1744666X.2026.2659683

Anita M Husain, Colby Sharlin, Shauna Schroeder

引用次数: 0