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Implementation of genetic diagnosis and personalized management of hereditary angioedema in a Chinese regional center: a community case study of three families. 中国区域中心遗传性血管性水肿的遗传诊断和个性化治疗的实施:三个家庭的社区案例研究。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-12 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1696666
Wenjin Du, Zhaoji Meng, Ke Yang, Qiuxing Zhang, Xianghua Lin, Wenchao Zhang, Weili Guo, Siqin Wang
<p><strong>Background: </strong>Hereditary angioedema (HAE) remains significantly underdiagnosed and misdiagnosed in China, with laryngeal involvement leading to high mortality rates, creating an urgent need for exploring feasible diagnostic and management approaches in resource-limited settings.</p><p><strong>Objectives: </strong>To establish and evaluate a community-oriented comprehensive HAE diagnosis and management program at a regional center in central China; characterize the clinical and biochemical phenotypes of three unrelated families; identify <i>SERPING1</i> variants; implement personalized treatment and family cascade screening; and evaluate key program elements as a proof-of-concept model.</p><p><strong>Methods: </strong>From September 2022 to August 2025, we established a systematic workflow for suspected HAE cases at Henan Provincial People's Hospital, integrating clinical assessment, biochemical testing, and genetic analysis. Three unrelated families (45 subjects total) were enrolled. The program included standardized clinical assessment and real-time biochemical screening (C4, C1 inhibitor concentration/function), targeted <i>SERPING1</i> sequencing and variant classification American College of Medical Genetics and Genomics (ACMG), family cascade screening and genetic counseling, stratified personalized treatment (on-demand icatibant and lanadelumab prophylaxis), electronic follow-up Angioedema Control Test (AECT)/Angioedema Quality of Life Questionnaire (AE-QoL), and quality management [Standard Operating Procedures (SOPs) and provincial External Quality Assessment (EQA) planning)].</p><p><strong>Results: </strong>Family 1: A heterozygous missense variant c.1034G > A (p.Gly345Glu) was detected in exon 7 of <i>SERPING1</i> in the proband, absent in 13 unaffected family members. Laboratory tests showed decreased serum C4 and C1INH levels with reduced functional activity, consistent with HAE type 1. Family 2: Three affected members carried the same heterozygous missense variant c.1396C > T (p.Arg466Cys) in exon 8 of <i>SERPING1</i>, absent in 8 unaffected members. Despite elevated C1INH antigen levels, functional activity was markedly reduced, establishing HAE type 2 diagnosis. Family 3: Three affected members carried the same heterozygous missense variant c.1483G > A (p.Val495Ile) in exon 8 of <i>SERPING1</i>, absent in 17 unaffected members. Laboratory tests showed decreased serum C4 and C1INH levels with reduced functional activity, consistent with HAE type 1. Personalized treatment strategies achieved good disease control: mild cases with on-demand icatibant; severe phenotypes with lanadelumab prophylaxis. During 12-25 months of follow-up, the four symptomatic patients showed markedly reduced attack frequency with no life-threatening events.</p><p><strong>Discussion & conclusion: </strong>This community program represents a proof-of-concept demonstrating what is possible in establishing specialized HAE services in resource-li
背景:遗传性血管性水肿(遗传性血管性水肿,HAE)在中国仍有明显的漏诊和误诊,累及喉部导致高死亡率,迫切需要在资源有限的情况下探索可行的诊断和治疗方法。目的:在中国中部某区域中心建立并评价以社区为导向的HAE综合诊断和管理方案;表征三个不相关家族的临床和生化表型;鉴定SERPING1变异;实施个性化治疗和家庭级联筛查;并评估关键项目元素作为概念验证模型。方法:从2022年9月至2025年8月,我们建立了河南省人民医院临床评估、生化检测和基因分析相结合的疑似HAE病例系统工作流程。纳入3个无血缘关系的家庭(共45名受试者)。该项目包括标准化临床评估和实时生化筛查(C4、C1抑制剂浓度/功能)、美国医学遗传与基因组学学院(ACMG) SERPING1靶向测序和变异分类、家庭级联筛查和遗传咨询、分层个性化治疗(按需伊卡替特和lanadelumab预防)、电子随访血管性水肿控制测试(AECT)/血管性水肿生活质量问卷(AE-QoL)、质量管理[标准作业程序(sop)和省级外部质量评估(EQA)计划]。结果:家族1:先证者SERPING1的第7外显子检测到杂合错义变异c.1034G > A (p.Gly345Glu), 13名未受影响的家族成员中缺失。实验室检查显示血清C4和C1INH水平降低,功能活性降低,与1型HAE一致。家族2:3名受影响成员在SERPING1的第8外显子携带相同的杂合错义变体c.1396C > T (p.a g466cys), 8名未受影响成员缺失。尽管C1INH抗原水平升高,但功能活性明显降低,确定HAE 2型诊断。家族3:3名受影响的成员在SERPING1的第8外显子携带相同的杂合错义变体c.1483G > A (p.Val495Ile), 17名未受影响的成员缺失。实验室检查显示血清C4和C1INH水平降低,功能活性降低,与1型HAE一致。个性化治疗策略取得了良好的疾病控制效果:轻症患者采用按需治疗;lanadelumab预防的严重表型。随访12-25个月,4例有症状患者发作频率明显降低,无危及生命事件。讨论与结论:这个社区项目代表了一个概念验证,展示了在资源有限的环境中建立专门的HAE服务的可能性。关键促进因素包括级联筛查和遗传咨询、标准化检测途径和变异分类、适应经济条件的灵活预防策略以及电子质量和结果监测。该项目扩大了国内SERPING1变异谱,并为未来HAE服务的发展提供了初步的见解和参考。
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引用次数: 0
Spices, herbs and allergic reactions in children: myth or reality - a narrative review with scoping elements. 香料,草药和儿童过敏反应:神话还是现实-一个具有范围元素的叙述回顾。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-11 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1698559
Elena Camelia Berghea, Gavriela Feketea, Maria-Teodora Cosoreanu, Olivia-Mihaela Popa, Marcela Daniela Ionescu, Corina Porr, Florian Berghea, Emilia Vassilopoulou

Spices and herbs are widely used for their flavor and therapeutic properties. This narrative review explores current evidence on spice and herb allergies in children, using a scoping approach to synthesize data from case reports, clinical, immunologic, molecular studies, regulatory sources, and previous reviews. Selected adult cases were included for context. Spice and herb allergies are increasingly recognized in children, with symptoms ranging from mild oral reactions to anaphylaxis. The most frequently implicated spices include mustard, celery, coriander, fennel, cumin, anise, pepper, and herbs from the Lamiaceae-family such as mint, oregano, and sage. Both IgE- and non-IgE-mediated mechanisms are involved, with cross-reactivity to pollens (birch and mugwort) being common. Diagnosis remains challenging due to limited standardized tests; oral food challenge is the gold standard. Management relies on strict allergen avoidance and emergency preparedness. Improved clinical awareness, diagnostic tools, and clearer labeling-especially regarding hidden allergens-are crucial for effective care.

香料和草药因其风味和治疗特性而被广泛使用。这篇叙述性综述探讨了儿童香料和草药过敏的现有证据,采用范围界定方法综合病例报告、临床、免疫学、分子研究、监管来源和以前的综述的数据。选定的成人病例也包括在内。儿童越来越多地认识到香料和草药过敏,其症状从轻微的口服反应到过敏反应不等。最常涉及的香料包括芥末、芹菜、香菜、茴香、孜然、茴香、胡椒,以及来自lamiaceae科的草药,如薄荷、牛至和鼠尾草。IgE介导和非IgE介导的机制都参与其中,对花粉(桦树和艾草)的交叉反应是常见的。由于标准化测试有限,诊断仍然具有挑战性;口腔食物挑战是黄金标准。管理依赖于严格的过敏原避免和应急准备。提高临床意识、诊断工具和更清晰的标签——尤其是隐藏的过敏原——对有效的护理至关重要。
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引用次数: 0
From mechanism to management: CEREMAST perspectives on the intersection of HαT and clonal mast cell disorders. 从机制到管理:HαT与克隆肥大细胞疾病交叉的研究。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-11 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1674609
Laura Polivka, Olivier Hermine, Julien Rossignol

Since its initial description ten years ago, numerous studies have contributed to a better understanding of the role of hereditary alpha-tryptasemia (HαT) in the diagnosis and management of patients with clonal mast cell activation disorders (cMCADs). These studies have highlighted the high prevalence of HαT among cMCADs patients, the associated elevation in baseline serum tryptase levels-which can influence both diagnosis and disease monitoring-and distinct clinical features, notably an increased risk of severe anaphylaxis. As a result, screening for HαT has become an integral part of the diagnostic work-up in patients with cMCADs. However, several key questions remain unresolved: Why is HαT more prevalent among cMCADs patients? How can we accurately distinguish between HαT and cMCADs during the diagnostic process? And how does the presence of this genetic trait influence the clinical management of cMCADs? In this article, we present the position and clinical approach of the French National Reference Center for Mastocytosis (CEREMAST).

自十年前首次描述以来,大量研究有助于更好地了解遗传性α -胰蛋白酶血症(HαT)在克隆肥大细胞激活障碍(cmcad)患者的诊断和管理中的作用。这些研究强调了HαT在cmcad患者中的高流行率,相关的基线血清胰蛋白酶水平升高-这可以影响诊断和疾病监测-以及明显的临床特征,特别是严重过敏反应的风险增加。因此,筛选h - α t已成为cmcad患者诊断工作中不可或缺的一部分。然而,几个关键问题仍未解决:为什么h - α t在cmcad患者中更为普遍?在诊断过程中如何准确区分h - α t和cmcad ?这种遗传特征的存在如何影响cmcad的临床管理?在这篇文章中,我们介绍了法国国家肥大细胞增多症参考中心(ast)的位置和临床方法。
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引用次数: 0
Temporarily induced facial eczema by IL-17 inhibitors: a case report and literature review. IL-17抑制剂致暂时性面部湿疹1例并文献复习。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-11 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1672897
Ting Zhang, Fanzhang Meng, Junchen He, Chen Li, Zuotao Zhao

Biologics targeting interleukin-17 (IL-17) are widely used for moderate to severe psoriasis with great efficiency. Nonetheless, their usage has sporadically resulted in paradoxical reactions, such as eczema, sarcoidosis-like eruptions, alopecia areata, and pyoderma gangrenosum. Here, we report a case of temporary facial eczema to secukinumab with a score of 5 on the Naranjo scale, which suggests a probable drug side effect. The patient was a 32-year-old Chinese male with a history of chronic plaque psoriasis for 5 years. He was previously treated with topical steroids, calcipotriol, narrowband ultraviolet B phototherapy, and oral traditional Chinese medicine intermittently since 2020. In January of 2025, his psoriasis exacerbated and was not well controlled. The patient underwent an initial regimen of 300 mg secukinumab once weekly for 4 weeks, with significant psoriasis area and severity index (PASI) improvement, and was scheduled to continue maintenance therapy on a regimen of every 4 weeks. However, in the seventh week of the secukinumab treatment course, the patient's face developed diffuse, swollen, erythematous patches that had almost coalesced into sheets. The surface is smooth, without scales, blisters, or exudation, and accompanied by mild itching. Lab tests show elevated alanine aminotransferase (ALT) at 83.2 U/L (normal range: 9-50 U/L), slightly increased direct bilirubin at 8.48 μmol/L (normal range: 0-8.0 μmol/L). Other lab tests showed no significant abnormalities. After oral compound glycyrrhizin, olopatadine hydrochloride, triprolidine hydrochloride, and topical pimecrolimus for a week, his facial lesions were completely cleared. Liver function tests normalized following a 2-week course of polyenphosphatidylcholine. The patient delayed secukinumab administration by 2 weeks and continued 300 mg secukinumab administration on a regimen of every 4 weeks. No recurrence of similar rash or other adverse effects was observed during the subsequent follow-up period over 5 months. It is concluded that eczema could be induced temporarily by secukinumab, and maybe continued application.

以白介素-17 (IL-17)为靶点的生物制剂广泛应用于中重度银屑病的治疗,疗效显著。尽管如此,它们的使用偶尔会导致矛盾的反应,如湿疹、结节病样爆发、斑秃和坏疽性脓皮病。在这里,我们报告了一个暂时面部湿疹的病例,在纳兰霍量表上得分为5分,这表明可能存在药物副作用。患者男性,32岁,慢性斑块性银屑病病史5年。自2020年以来,患者曾接受局部类固醇、钙化三醇、窄带紫外线B光疗和间歇性口服中药治疗。2025年1月,他的牛皮癣加重,控制不好。患者接受了300 mg secukinumab的初始治疗方案,每周1次,持续4周,牛皮癣面积和严重程度指数(PASI)明显改善,并计划继续每4周进行一次维持治疗。然而,在接受secukinumab治疗的第7周,患者的面部出现弥漫性、肿胀、红斑斑块,几乎合并成片状。表面光滑,无鳞片、水疱或渗出,伴有轻度瘙痒。实验室检查显示谷丙转氨酶(ALT)升高83.2 μmol/L(正常范围:9 ~ 50 μmol/L),直接胆红素轻度升高8.48 μmol/L(正常范围:0 ~ 8.0 μmol/L)。其他实验室检查显示没有明显异常。口服复方甘草酸、盐酸奥洛他定、盐酸曲普利定、吡美莫司1周后,面部病变完全清除。多磷脂酰胆碱治疗2周后肝功能恢复正常。患者将secukinumab给药延迟了2周,并继续每4周给药300mg secukinumab。在随后5个多月的随访期间,未观察到类似皮疹或其他不良反应的复发。结论:secukinumab可暂时诱导湿疹,可继续应用。
{"title":"Temporarily induced facial eczema by IL-17 inhibitors: a case report and literature review.","authors":"Ting Zhang, Fanzhang Meng, Junchen He, Chen Li, Zuotao Zhao","doi":"10.3389/falgy.2025.1672897","DOIUrl":"https://doi.org/10.3389/falgy.2025.1672897","url":null,"abstract":"<p><p>Biologics targeting interleukin-17 (IL-17) are widely used for moderate to severe psoriasis with great efficiency. Nonetheless, their usage has sporadically resulted in paradoxical reactions, such as eczema, sarcoidosis-like eruptions, alopecia areata, and pyoderma gangrenosum. Here, we report a case of temporary facial eczema to secukinumab with a score of 5 on the Naranjo scale, which suggests a probable drug side effect. The patient was a 32-year-old Chinese male with a history of chronic plaque psoriasis for 5 years. He was previously treated with topical steroids, calcipotriol, narrowband ultraviolet B phototherapy, and oral traditional Chinese medicine intermittently since 2020. In January of 2025, his psoriasis exacerbated and was not well controlled. The patient underwent an initial regimen of 300 mg secukinumab once weekly for 4 weeks, with significant psoriasis area and severity index (PASI) improvement, and was scheduled to continue maintenance therapy on a regimen of every 4 weeks. However, in the seventh week of the secukinumab treatment course, the patient's face developed diffuse, swollen, erythematous patches that had almost coalesced into sheets. The surface is smooth, without scales, blisters, or exudation, and accompanied by mild itching. Lab tests show elevated alanine aminotransferase (ALT) at 83.2 U/L (normal range: 9-50 U/L), slightly increased direct bilirubin at 8.48 μmol/L (normal range: 0-8.0 μmol/L). Other lab tests showed no significant abnormalities. After oral compound glycyrrhizin, olopatadine hydrochloride, triprolidine hydrochloride, and topical pimecrolimus for a week, his facial lesions were completely cleared. Liver function tests normalized following a 2-week course of polyenphosphatidylcholine. The patient delayed secukinumab administration by 2 weeks and continued 300 mg secukinumab administration on a regimen of every 4 weeks. No recurrence of similar rash or other adverse effects was observed during the subsequent follow-up period over 5 months. It is concluded that eczema could be induced temporarily by secukinumab, and maybe continued application.</p>","PeriodicalId":73062,"journal":{"name":"Frontiers in allergy","volume":"6 ","pages":"1672897"},"PeriodicalIF":3.1,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12643843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145643612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of biologic therapy on blood cell indices and exacerbation risk in severe asthma: predictive value of the neutrophil-to-eosinophil ratio. 生物治疗对严重哮喘患者血细胞指数和恶化风险的影响:中性粒细胞与嗜酸性粒细胞比值的预测价值。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-07 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1691886
Mona Al-Ahmad, Asmaa Ali, Wafaa Talat

Background: Although biologic therapies have transformed the management of severe asthma, reliable blood-based markers to measure treatment response and predict residual exacerbation risk remain limited. The aim of this study was evaluating routine hematologic indices as predictors of disease control and exacerbations after biologic therapy.

Methods: A cohort study included 107 patients with severe asthma were assessed before and after one year of initiating biologics. Asthma control was measured with the Asthma Control Test (ACT) and Asthma Control Questionnaire (ACQ-6); exacerbations were prospectively recorded. Complete blood counts were obtained at both time-points.

Results: patients with severe asthma were predominantly middle-aged, obese, non-smoking women with poorly controlled asthma and elevated eosinophil counts. Biologic therapy resulted in a significant reduction in median blood eosinophil count, halving it from 480 to 240 cells/µl (p < 0.001). Smaller but statistically significant decreases were also observed in total leukocyte count and neutrophil count (both p = 0.02), leading to a marked increase in the neutrophil-to-eosinophil ratio (NER, p < 0.001). Post-treatment, higher neutrophil counts and NER correlated with poorer asthma control, while elevated neutrophils, monocytes, and NER were significantly associated with exacerbations. Logistic regression confirmed monocytes (OR 1.03, P = 0.01) and NER (OR 1.07, P = 0.04) as independent predictors of exacerbation, with ROC analysis showing their significant discriminative ability (AUC 0.64-0.66). Depending on the clinical objective to rule out or confirm exacerbation risk, specific cutoffs for NER (>3.97) and monocytes (>435/µl) offered high sensitivity (∼92%), or high cutoffs for NER (>50.65) and monocytes (>755/µl) offered high specificity (∼91%).

Conclusion: Biologic therapy significantly reduced eosinophils and altered NER in severe asthma. Prominently, elevated post-treatment neutrophils, monocytes, and particularly a higher NER, were significant predictors of poorer asthma control and increased exacerbation risk, offering clinically useful biomarkers for personalized management.

背景:尽管生物疗法已经改变了严重哮喘的治疗方式,但可靠的血液标志物来衡量治疗反应和预测剩余恶化风险仍然有限。本研究的目的是评估常规血液学指标作为生物治疗后疾病控制和恶化的预测指标。方法:一项队列研究包括107例重度哮喘患者,在开始使用生物制剂之前和之后进行评估。采用哮喘控制测验(ACT)和哮喘控制问卷(ACQ-6)检测哮喘控制情况;前瞻性地记录恶化情况。在两个时间点均获得全血细胞计数。结果:重度哮喘患者以中年、肥胖、不吸烟、哮喘控制不佳、嗜酸性粒细胞升高的女性为主。生物治疗导致中位血嗜酸性粒细胞计数显著降低,从480个细胞/µl降至240个细胞/µl (p p = 0.02),导致中性粒细胞/嗜酸性粒细胞比率(NER, p p = 0.01)和NER (OR 1.07, p = 0.04)作为病情恶化的独立预测因子显著增加,ROC分析显示它们具有显著的判别能力(AUC为0.64-0.66)。根据排除或确认恶化风险的临床目标,NER(>3.97)和单核细胞(>435/µl)的特异性截止值具有高灵敏度(~ 92%),或NER(>50.65)和单核细胞(>755/µl)的高截止值具有高特异性(~ 91%)。结论:生物治疗可显著降低重度哮喘患者的嗜酸性粒细胞,改变NER。值得注意的是,治疗后中性粒细胞、单核细胞升高,尤其是NER升高,是哮喘控制较差和加重风险增加的重要预测因素,为个性化治疗提供了临床有用的生物标志物。
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引用次数: 0
Predicting first-time anaphylaxis in the elderly using stacked machine learning and population registers. 使用堆叠机器学习和人口登记预测老年人首次过敏反应。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-06 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1655662
Toni Mora, David Roche, Rosa Muñoz-Cano

Background: Anaphylaxis is a severe, potentially life-threatening allergic reaction that requires rapid identification and intervention. Predicting individuals at risk remains a clinical challenge due to its multifactorial nature and variable presentation.

Objective: To develop and evaluate explainable machine learning models that predict the risk of anaphylaxis using routinely collected clinical data.

Methods: We analysed a matched case-control dataset derived from anonymised electronic health records. After applying chi-squared-based feature selection, we trained multiple classification algorithms-including logistic regression, decision trees, random forests, XGBoost, and a stacking ensemble. Model performance was evaluated using AUC, sensitivity, specificity, precision, and F1-score. SHAP values were used to assess model explainability.

Results: The best-performing model achieved an AUC of 0.79, demonstrating high discrimination and balanced sensitivity/specificity. Key predictors included healthcare utilisation patterns, age, socioeconomic proxy (copayment level), and specific diagnostic codes related to allergic conditions.

Conclusion: This study demonstrates the potential of interpretable machine learning approaches to support the early identification of individuals at high risk of anaphylaxis. These tools can enhance clinical risk stratification and inform preventive strategies in routine practice.

背景:过敏反应是一种严重的、可能危及生命的过敏反应,需要快速识别和干预。由于其多因素的性质和可变的表现,预测个体的风险仍然是一个临床挑战。目的:开发和评估可解释的机器学习模型,利用常规收集的临床数据预测过敏反应的风险。方法:我们分析了来自匿名电子健康记录的匹配病例对照数据集。在应用基于卡方的特征选择之后,我们训练了多种分类算法,包括逻辑回归、决策树、随机森林、XGBoost和堆叠集成。使用AUC、敏感性、特异性、精确度和f1评分评估模型性能。SHAP值用于评估模型的可解释性。结果:最佳模型的AUC为0.79,具有较高的鉴别能力和平衡的敏感性/特异性。关键预测因素包括医疗保健利用模式、年龄、社会经济代理(共同支付水平)和与过敏状况相关的特定诊断代码。结论:这项研究证明了可解释的机器学习方法的潜力,可以支持过敏反应高风险个体的早期识别。这些工具可以加强临床风险分层,并在日常实践中告知预防策略。
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引用次数: 0
Editorial: Prediction of severity of food allergy. 社论:预测食物过敏的严重程度。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-06 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1717271
Richard L Wasserman
{"title":"Editorial: Prediction of severity of food allergy.","authors":"Richard L Wasserman","doi":"10.3389/falgy.2025.1717271","DOIUrl":"10.3389/falgy.2025.1717271","url":null,"abstract":"","PeriodicalId":73062,"journal":{"name":"Frontiers in allergy","volume":"6 ","pages":"1717271"},"PeriodicalIF":3.1,"publicationDate":"2025-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12631211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145589653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The epithelial barrier: a Janus-faced regulator in allergic airway diseases from defense to inflammation. 上皮屏障:过敏性气道疾病从防御到炎症的双面调节因子。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-06 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1693611
Youwei Bao, Qi Chen, Binbin Shi, Xinhua Zhu

Background: The epithelial barrier serves as the body's first line of defense between the host immune system and the external environment. Evidence confirms that epithelial barrier damage is an initial event in the pathogenesis of allergic respiratory diseases, during which the barrier exhibits a dual "Janus-faced" role.

Methods: This review synthesizes current literature to explore the molecular and cellular mechanisms underlying epithelial barrier dysfunction, including dysregulation of tight junctions, aberrant immune signaling, and release of pro-inflammatory alarmins. We also evaluate contemporary diagnostic technologies for assessing the epithelial barrier and analyze current therapeutic strategies aimed at its restoration.

Results: An intact respiratory epithelial barrier effectively defends against allergens and pathogens. When compromised, it exacerbates inflammatory responses through the release of alarmins. Advances in omics-based profiling and advanced imaging now enable precise assessment of barrier integrity. Therapeutically, innovative strategies-including immunomodulators, biologics, and novel agents targeting epithelial repair pathways-offer promising avenues for restoring barrier function and controlling inflammation.

Conclusion: Real-time and effective diagnosis of epithelial barrier integrity, coupled with therapeutic strategies targeting the barrier, are pivotal for achieving long-term disease control in asthma, allergic rhinitis, and related conditions. Future research should focus on barrier-centric integrated approaches to bridge fundamental scientific discoveries with clinical applications.

背景:上皮屏障是机体在宿主免疫系统和外部环境之间的第一道防线。有证据证实,上皮屏障损伤是过敏性呼吸道疾病发病机制的初始事件,在此过程中,屏障表现出双重“双面”作用。方法:本文综合现有文献,探讨上皮屏障功能障碍的分子和细胞机制,包括紧密连接的失调、异常免疫信号和促炎警报的释放。我们还评估了用于评估上皮屏障的当代诊断技术,并分析了当前旨在恢复上皮屏障的治疗策略。结果:完整的呼吸道上皮屏障能有效防御过敏原和病原体。当受到损害时,它会通过释放警报来加剧炎症反应。基于组学的分析和先进的成像技术的进步现在可以精确地评估屏障的完整性。在治疗方面,包括免疫调节剂、生物制剂和靶向上皮修复途径的新型药物在内的创新策略为恢复屏障功能和控制炎症提供了有希望的途径。结论:上皮屏障完整性的实时有效诊断,加上针对屏障的治疗策略,对于实现哮喘、变应性鼻炎及相关疾病的长期控制至关重要。未来的研究应侧重于以障碍为中心的综合方法,将基础科学发现与临床应用联系起来。
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引用次数: 0
Burden of allergic rhinitis in the United Kingdom. 英国过敏性鼻炎的负担。
IF 3.1 Q2 ALLERGY Pub Date : 2025-11-04 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1676574
Michael Jones, Hilary Shepherd, Diane Hatziioanou, Daphne Martin, Chisomo Mutafya, Ulf Bohman, Susan Hodgson, Rachael Williams

Introduction: Allergic rhinitis (AR) is a systemic respiratory condition that is associated with a considerable humanistic burden and is frequently underdiagnosed. Despite the known effects of AR on individual patient well-being, the wider impact of AR on the UK healthcare system remains poorly defined. We aimed to compare healthcare resource use (HCRU) posed by this disease across different age groups between patients who were diagnosed in primary care only vs. those who have a secondary care diagnosis.

Methods: In this retrospective, observational study, patients with an AR record (AR diagnosis) and patients with a record of presenting with AR symptoms but no previous AR diagnosis (AR presentation) in the UK between 2009 and 2019 were defined from primary care and secondary care databases. Patients in the AR diagnosis cohort were further categorized based on whether they had a diagnostic code in primary care only, or any relevant diagnostic code(s) in secondary care for allergist or Ear, Nose, and Throat (ENT) services referrals. Key outcomes included specialist referrals, general practitioner (GP) visits, respiratory-related hospitalizations, GP-prescribed AR-related prescriptions, and coincident asthma.

Results: A total of 3,344,716 patients were defined as presenting signs of AR and 677,771 patients were defined as having an AR diagnosis between 2009 and 2019. Only 11.7% of the AR presentation group received ≥1 referral to an allergist or ENT, and most patients in the AR diagnosis group received a diagnosis in primary care only (89.3%). Compared to their HCRU before diagnosis, patients diagnosed with AR experienced an increase in mean GP visits [7.5-10.0 per patient per year (PPPY)], respiratory-related hospitalizations (5.5-7.1 PPPY), and AR-related medications (mean 8.8-15.0 PPPY). Patients with at least one diagnostic code in secondary care generally reported higher HCRU post-diagnosis than those in primary care. The incidence rate of asthma was lower after AR diagnosis compared to before, with a shorter interval between the onset of asthma and the diagnosis of AR.

Conclusion: Patients with AR impose a greater burden on the UK healthcare system following their diagnosis, especially those who require follow-up from respiratory specialists.

简介:变应性鼻炎(AR)是一种系统性呼吸系统疾病,与相当大的人类负担相关,并且经常被误诊。尽管已知AR对个体患者健康的影响,但AR对英国医疗保健系统的更广泛影响仍然不明确。我们的目的是比较在初级保健诊断的患者与在二级保健诊断的患者在不同年龄组中由该疾病引起的医疗保健资源使用(HCRU)。方法:在这项回顾性观察性研究中,从英国的初级保健和二级保健数据库中定义了2009年至2019年间有AR记录(AR诊断)和有AR症状但没有AR诊断(AR表现)的患者。AR诊断队列中的患者进一步分类是基于他们是否仅在初级保健中有诊断代码,还是在过敏专科医生或耳鼻喉科(ENT)服务转诊的二级保健中有任何相关的诊断代码。主要结果包括专科转诊、全科医生(GP)就诊、呼吸相关住院、GP处方的ar相关处方和合并哮喘。结果:在2009年至2019年期间,共有3,344,716名患者被定义为出现AR迹象,677,771名患者被定义为患有AR诊断。只有11.7%的AR表现组接受了≥1次过敏专科医生或耳鼻喉科的转诊,而AR诊断组的大多数患者仅接受了初级保健诊断(89.3%)。与诊断前的HCRU相比,被诊断为AR的患者的平均GP就诊次数[每位患者每年7.5-10.0次(PPPY)]、呼吸相关住院次数(5.5-7.1 PPPY)和AR相关药物治疗次数(平均8.8-15.0 PPPY)均有所增加。在二级保健中至少有一个诊断代码的患者通常报告的诊断后HCRU高于初级保健患者。诊断为AR后,哮喘的发病率较诊断前降低,哮喘发作与AR诊断之间的间隔时间更短。结论:AR患者在诊断后给英国医疗系统带来了更大的负担,特别是那些需要呼吸专科医生随访的患者。
{"title":"Burden of allergic rhinitis in the United Kingdom.","authors":"Michael Jones, Hilary Shepherd, Diane Hatziioanou, Daphne Martin, Chisomo Mutafya, Ulf Bohman, Susan Hodgson, Rachael Williams","doi":"10.3389/falgy.2025.1676574","DOIUrl":"10.3389/falgy.2025.1676574","url":null,"abstract":"<p><strong>Introduction: </strong>Allergic rhinitis (AR) is a systemic respiratory condition that is associated with a considerable humanistic burden and is frequently underdiagnosed. Despite the known effects of AR on individual patient well-being, the wider impact of AR on the UK healthcare system remains poorly defined. We aimed to compare healthcare resource use (HCRU) posed by this disease across different age groups between patients who were diagnosed in primary care only vs. those who have a secondary care diagnosis.</p><p><strong>Methods: </strong>In this retrospective, observational study, patients with an AR record (AR diagnosis) and patients with a record of presenting with AR symptoms but no previous AR diagnosis (AR presentation) in the UK between 2009 and 2019 were defined from primary care and secondary care databases. Patients in the AR diagnosis cohort were further categorized based on whether they had a diagnostic code in primary care only, or any relevant diagnostic code(s) in secondary care for allergist or Ear, Nose, and Throat (ENT) services referrals. Key outcomes included specialist referrals, general practitioner (GP) visits, respiratory-related hospitalizations, GP-prescribed AR-related prescriptions, and coincident asthma.</p><p><strong>Results: </strong>A total of 3,344,716 patients were defined as presenting signs of AR and 677,771 patients were defined as having an AR diagnosis between 2009 and 2019. Only 11.7% of the AR presentation group received ≥1 referral to an allergist or ENT, and most patients in the AR diagnosis group received a diagnosis in primary care only (89.3%). Compared to their HCRU before diagnosis, patients diagnosed with AR experienced an increase in mean GP visits [7.5-10.0 per patient per year (PPPY)], respiratory-related hospitalizations (5.5-7.1 PPPY), and AR-related medications (mean 8.8-15.0 PPPY). Patients with at least one diagnostic code in secondary care generally reported higher HCRU post-diagnosis than those in primary care. The incidence rate of asthma was lower after AR diagnosis compared to before, with a shorter interval between the onset of asthma and the diagnosis of AR.</p><p><strong>Conclusion: </strong>Patients with AR impose a greater burden on the UK healthcare system following their diagnosis, especially those who require follow-up from respiratory specialists.</p>","PeriodicalId":73062,"journal":{"name":"Frontiers in allergy","volume":"6 ","pages":"1676574"},"PeriodicalIF":3.1,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12631609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145589604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Allergen immunotherapy for the control of moderate to severe allergic asthma: an evidence-based conjoint analysis to define candidate patient profiles in Spain and Portugal. 控制中重度过敏性哮喘的过敏原免疫疗法:一项基于证据的联合分析,以确定西班牙和葡萄牙的候选患者概况。
IF 3.1 Q2 ALLERGY Pub Date : 2025-10-30 eCollection Date: 2025-01-01 DOI: 10.3389/falgy.2025.1676399
J Delgado, R Cárdenas, S Gelis, J Domínguez-Ortega

Introduction: Allergen immunotherapy (AIT) is an effective and safe treatment; however, it is not recommended in consensus guidelines for severe allergic asthma patients. As AIT has been shown to be capable of modifying the course of the disease, it should be considered a concomitant treatment for specific asthma patients. This study aimed to define the profile of patients with severe allergic asthma who are most likely to benefit from AIT.

Methods: A conjoint analysis approach was adopted to comprehensively assess the importance of clinical attributes in therapeutic decision-making. A scientific committee selected the main attributes to be considered: lung function, clinical control of allergic asthma, current main treatment and etiological confirmation of moderate to severe allergic asthma. Using the fractional factorial analysis technique, 8 eligible patient profiles for AIT were defined. Participant allergists, by means of a questionnaire, classified the profiles in order of preference, mimicking the comprehensive assessment performed in clinical practice.

Results: 91 allergists from Spain and Portugal with experience in asthma and AIT participated in the study. Allergists gave greater importance to the clinical control of allergic asthma (relative importance of 51.6%), followed by preserved lung function (relative importance of 25.0%), thus confirming that the most important criterion was good control of the underlying asthmatic condition.

Conclusions: The expert allergists endorse the use of AIT in the management of moderate to severe allergic asthma in patients with appropriate clinical characteristics. Additional studies to further investigate the safety and effectiveness of this new therapeutic approach would be of interest.

过敏原免疫疗法是一种安全有效的治疗方法;然而,在严重过敏性哮喘患者的共识指南中不推荐使用。由于AIT已被证明能够改变疾病的进程,它应该被认为是特定哮喘患者的伴随治疗。本研究旨在确定最可能受益于AIT的严重过敏性哮喘患者的概况。方法:采用联合分析方法,综合评价临床属性在治疗决策中的重要性。一个科学委员会选择了考虑的主要属性:肺功能、过敏性哮喘的临床控制、目前的主要治疗和中重度过敏性哮喘的病因确认。采用分数因子分析技术,确定了8例符合AIT条件的患者。参与者过敏症专家通过问卷调查的方式,模仿临床实践中进行的综合评估,按偏好顺序对档案进行分类。结果:来自西班牙和葡萄牙的91名具有哮喘和AIT治疗经验的过敏症专家参与了这项研究。过敏症专科医生认为变应性哮喘的临床控制更重要(相对重要性为51.6%),其次是肺功能的保存(相对重要性为25.0%),从而确认对哮喘基础病情的良好控制是最重要的标准。结论:过敏症专家支持在具有适当临床特征的中重度变应性哮喘患者中使用AIT。进一步研究这种新治疗方法的安全性和有效性值得关注。
{"title":"Allergen immunotherapy for the control of moderate to severe allergic asthma: an evidence-based conjoint analysis to define candidate patient profiles in Spain and Portugal.","authors":"J Delgado, R Cárdenas, S Gelis, J Domínguez-Ortega","doi":"10.3389/falgy.2025.1676399","DOIUrl":"10.3389/falgy.2025.1676399","url":null,"abstract":"<p><strong>Introduction: </strong>Allergen immunotherapy (AIT) is an effective and safe treatment; however, it is not recommended in consensus guidelines for severe allergic asthma patients. As AIT has been shown to be capable of modifying the course of the disease, it should be considered a concomitant treatment for specific asthma patients. This study aimed to define the profile of patients with severe allergic asthma who are most likely to benefit from AIT.</p><p><strong>Methods: </strong>A conjoint analysis approach was adopted to comprehensively assess the importance of clinical attributes in therapeutic decision-making. A scientific committee selected the main attributes to be considered: lung function, clinical control of allergic asthma, current main treatment and etiological confirmation of moderate to severe allergic asthma. Using the fractional factorial analysis technique, 8 eligible patient profiles for AIT were defined. Participant allergists, by means of a questionnaire, classified the profiles in order of preference, mimicking the comprehensive assessment performed in clinical practice.</p><p><strong>Results: </strong>91 allergists from Spain and Portugal with experience in asthma and AIT participated in the study. Allergists gave greater importance to the clinical control of allergic asthma (relative importance of 51.6%), followed by preserved lung function (relative importance of 25.0%), thus confirming that the most important criterion was good control of the underlying asthmatic condition.</p><p><strong>Conclusions: </strong>The expert allergists endorse the use of AIT in the management of moderate to severe allergic asthma in patients with appropriate clinical characteristics. Additional studies to further investigate the safety and effectiveness of this new therapeutic approach would be of interest.</p>","PeriodicalId":73062,"journal":{"name":"Frontiers in allergy","volume":"6 ","pages":"1676399"},"PeriodicalIF":3.1,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Frontiers in allergy
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